IthaCNVs

Welcome to IthaCNVs

Copy number variants (CNVs), mainly major deletions and duplications, within the β-globin and α-globin gene cluster causing approximately 10% and 95% of the β- and α-thalassaemia respectively.
The IthaCNVs tool is a novel ITHANET tool that provide significant information about large deletions/duplications. The tool allows the user to enter:

Specific breakpoints (single base/exact location) to retrieve the corresponding known CNV
Approximated breakpoints (range of the 3’ and 5’ breakpoints) to retrieve a candidate list of known CNVs
MLPA probes to retrieve a specific or a list of known CNVs

Filter table by:

Filter 5' BP location by:		Filter 3' BP location by:
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5' Breakpoint		3' Breakpoint
Exact position filtering: use the same breakpoint position in From and To.
From:		From:
To:		To:
	Out of locus	Out of locus
From:		From:
To:		To:
5' Break Point		3' Break Point
Last normal:		Last affected:
1_st affected:		1_st normal:
Filter genes:

Locations of the breakpoints and MLPA probes are based on GRCh38.p13.
The SALSA MLPA Probemix P102-D1 HBB and P140-C1 HBA kit were used.
A tool for converting genome coordinates and genome annotation files between assemblies can be found here.
The individual locus and chromosome breakpoint positions can be viewed by expanding () each filtering results row.

IthaID	Common name	Genes	5' Breakpoints			3' Breakpoints			HGVS name	Functionality	Locus 5' BP from	Locus 5' BP to	Locus 3' BP from	Locus 3' BP to	Chromosome 5' BP from	Chromosome 5' BP to	Chromosome 3' BP from	Chromosome 3' BP to	Chromosome	Locus
			Type	MLPA Probes				Type	HGVS name	Functionality	Locus 5' BP from	Locus 5' BP to	Locus 3' BP from	Locus 3' BP to	Chromosome 5' BP from	Chromosome 5' BP to	Chromosome 3' BP from	Chromosome 3' BP to	Chromosome	Locus
			Type	Last normal	1^st affected	Last affected	1^st normal	Type	HGVS name	Functionality	Locus 5' BP from	Locus 5' BP to	Locus 3' BP from	Locus 3' BP to	Chromosome 5' BP from	Chromosome 5' BP to	Chromosome 3' BP from	Chromosome 3' BP to
110	IVS I-5 (G>A) + Corfu deletion	HBB, HBD	Exact	21235-L29611	21555-L30397	05821-L06327	21239-L29615	Exact	NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A	Causative	57237	No other BP defined	No other BP defined	64443	5233173	No other BP defined	No other BP defined	5240379	11	β-locus
209	IVS II-535 - CD 108 (+23, -310, +28)	HBB	Exact	No probe	No probe	No probe	No probe	Exact	HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT]	Causative	71590	No other BP defined	No other BP defined	71899	5225717	No other BP defined	No other BP defined	5226026	11	β-locus	This is a special case where MLPA probes could not be detected due to the size of the deletion.
281	IVS I [3 end] -44 bp	HBB	Exact	No probe	No probe	No probe	No probe	Exact	HBB:c.76_92+27del	Causative	70670	No other BP defined	No other BP defined	70713	5226903	No other BP defined	No other BP defined	5226946	11	β-locus	This is a special case where MLPA probes could not be detected due to the size of the deletion.
282	105 bp deletion	HBB	Exact	11883-L12683	11883-L12683	05828-L05332	05827-L06319	Exact	HBB:c.-74_31del	Causative	70521	No other BP defined	No other BP defined	70625	5226991	No other BP defined	No other BP defined	5227093	11	β-locus
283	290 bp deletion	HBB	Exact	05833-L05335	11883-L12683	05827-L06319	11982-L24242	Exact	HBB:c.-176_92+25del	Causative	70419	No other BP defined	No other BP defined	70708	5226908	No other BP defined	No other BP defined	5227197	11	β-locus
284	468 bp deletion	HBB	Exact	11883-L12683	05828-L05332	05827-L06319	11982-L24242	Exact	NG_000007.3:g.70070_70537del	Causative	70070	No other BP defined	No other BP defined	70537	5227079	No other BP defined	No other BP defined	5227546	11	β-locus
285	Black	HBB	Exact	11883-L12683	11883-L12683	05827-L06319	11982-L24242	Exact	HBB:c.-504_28del	Causative	70091	No other BP defined	No other BP defined	70622	5226994	No other BP defined	No other BP defined	5227517	11	β-locus
286	619 bp deletion	HBB	Exact	11885-L25666	13619-L15073	13619-L15073	05833-L05335	Exact	NG_000007.3:g.71609_72227del619	Causative	71609	No other BP defined	No other BP defined	72227	5225389	No other BP defined	No other BP defined	5226007	11	β-locus
288	Black, British	HBB	Exact	13619-L15073	05833-L05335	05827-L06319	11982-L24242	Exact	NG_000007.3:g.70060_71452del1393	Causative	70060	No other BP defined	No other BP defined	71452	5226163	No other BP defined	No other BP defined	5227556	11	β-locus
289	Croatian	HBB	Exact	13619-L15073	05833-L05335	11982-L24242	05824-L05328	Exact	NG_000007.3:g.69561_71164del1604	Causative	69561	No other BP defined	No other BP defined	71164	5226452	No other BP defined	No other BP defined	5228055	11	β-locus
290	Thai	HBB	Exact	11980-L12803	05836-L06321	05827-L06319	11982-L24242	Exact	NG_000007.3:g.69826_73313del	Causative	69826	No other BP defined	No other BP defined	73313	5224303	No other BP defined	No other BP defined	5227790	11	β-locus
291	Czech	HBB	Exact	13619-L15073	05833-L05335	05824-L05328	18108-SP0126-L15076	Exact	NG_000007.3:g.67258_71501del	Causative	67258	No other BP defined	No other BP defined	71501	5226115	No other BP defined	No other BP defined	5230358	11	β-locus
292	Turk	HBB	Exact	11980-L12803	05836-L06321	05824-L05328	18108-SP0126-L15076	Exact	NG_000007.3:g.[52524_60162del;66278_73952del]	Causative	66278	No other BP defined	No other BP defined	73952	5223664	No other BP defined	No other BP defined	5231338	11	β-locus
293	Cape Verdean	HBB	Exact	11980-L12803	05836-L06321	13619-L15073	05833-L05335	Exact	NG_000007.3:g.71548_79271del	Causative	71548	No other BP defined	No other BP defined	79271	5218334	No other BP defined	No other BP defined	5226068	11	β-locus
294	Asian Indian	HBB	Range	11980-L12803	05836-L06321	05824-L05328	18108-SP0126-L15076	Range	NG_000007.3:g.(67531_67533)_(77874_77876)del	Causative	67531	67533	77874	77876	5219740	5219742	5230083	5230085	11	β-locus
295	Australian (Anglo Saxon)	HBB	Exact	18253-L22962	11980-L12803	05827-L06319	11982-L24242	Exact	NC_000011.10:g.5215894_5227926del	Causative	69709	No other BP defined	No other BP defined	Out of locus	5215894	No other BP defined	No other BP defined	5227926	11	β-locus
296	Dutch	HBB	Exact	18251-L27003	18253-L22962	11982-L24242	05824-L05328	Exact	NG_000007.3:g.68071_80682del12612	Causative	68071	No other BP defined	No other BP defined	80682	5216934	No other BP defined	No other BP defined	5229545	11	β-locus
298	Filipino	HBB	Exact	18246-L30180	18251-L27003	05824-L05328	18108-SP0126-L15076	Exact	NC_000011.10:g.5112882 _5231358del	Causative	66258	No other BP defined	No other BP defined	Out of locus	51112882	No other BP defined	No other BP defined	5231358	11	β-locus
299	Italian	HBB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
300	-α3.7 (type I)	α3.7 hybrid, HBA1, HBA2	Exact	18881-L06288	08498-L08422	08498-L21607	04633-L23600	Exact	NG_000006.1:g.34247_38050del	Causative	34247	No other BP defined	No other BP defined	38050	173384	No other BP defined	No other BP defined	177187	16	α-locus
301	-α4.2	HBA2	Exact	04637-L04018	18097-L22521	S0585-SP0043-L09493	18096-L22520	Exact	NC_000016.10:g.169818_174075del	Causative	30681	No other BP defined	No other BP defined	34938	169818	No other BP defined	No other BP defined	174075	16	α-locus
302	-α2.4	HBA1	Exact	14855-L23604	18093-L22517	04638-L23602	04639-L04020	Exact	NG_000006.1:g.36860_39252del	Causative	36860	No other BP defined	No other BP defined	39252	175997	No other BP defined	No other BP defined	178389	16	α-locus
303	-α2.7	HBA1	Exact	14855-L23604	18093-L22517	04638-L23602	04639-L04020	Exact	NG_000006.1:g.36664_39364del2701	Causative	36664	No other BP defined	No other BP defined	39364	175801	No other BP defined	No other BP defined	178501	16	α-locus
304	-α3.5	HBA1	Exact	18093-L22517	18099-L22524	04639-L04020	19233-L25313	Exact	NG_000006.1:g.37464_40964del3501	Causative	37464	No other BP defined	No other BP defined	40964	176601	No other BP defined	No other BP defined	180101	16	α-locus
305	-α5.3	HBA2	Exact	04637-L04018	18097-L22521	18881-L06288	08498-L08422	Exact	NG_000006.1:g.28684_33930del5246	Causative	28684	No other BP defined	No other BP defined	33930	167821	No other BP defined	No other BP defined	173066	16	α-locus
306	-α7.9	HBA2	Exact	04637-L04018	18097-L22521	08494-L08417	14855-L23604	Exact	NG_000006.1:g.28322_36260del	Causative	28322	No other BP defined	No other BP defined	36260	167459	No other BP defined	No other BP defined	175397	16	α-locus
307	-α18	HBA1	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
309	--SEA	HBA1, HBA2	Exact	04624-L04004	04637-L04018	19233-L25313	15859-L21960	Exact	NC_000016.10:g.165401_184701del	Causative	26264	No other BP defined	No other BP defined	Out of locus	165401	No other BP defined	No other BP defined	184701	16	α-locus
310	--THAI	HBA1, HBA2, HBZ	Exact	04622-L04001	17214-SP0457-L20489	19233-L25313	15859-L21960	Exact	NC_000016.10:g.149863_183312del	Causative	10726	No other BP defined	No other BP defined	Out of locus	149863	No other BP defined	No other BP defined	183312	16	α-locus
311	--FIL	HBA1, HBA2, HBZ	Exact	04622-L04001	17214-SP0457-L20489	19233-L25313	15859-L21960	Exact	NC_000016.10:g.151641_182316del	Causative	12504	No other BP defined	No other BP defined	Out of locus	151641	No other BP defined	No other BP defined	182316	16	α-locus
312	--MED I	HBA1, HBA2	Range	04624-L04004	04637-L04018	04639-L04020	19233-L25313	Range	NG_000006.1:g.(23641_23662)_(41183_41203)del	Causative	23641	23662	41183	41203	162778	162799	180320	180340	16	α-locus
313	--MED II	HBA1, HBA2, HBZ	Range	04926-L23886	04622-L04001	04639-L04020	19233-L25313	Range	NG_000006.1:g.(7740_9712)_(39907_41156)del	Causative	7740	9712	39907	41156	146877	148849	179044	180293	16	α-locus
314	-(α)20.5	HBA1, HBA2	Range	17214-SP0457-L20489	04624-L04004	18881-L06288	08498-L21607	Range	NG_000006.1:g.(18148_18200)_(37868_37901)del	Causative	18148	18200	37868	37901	157285	157337	177005	177038	16	α-locus
315	--SA	HBA1, HBA2	Exact	17214-SP0457-L20489	04624-L04004	19233-L25313	15859-L21960	Exact	NC_000016.10:g.159052_182788delins139752_139596	Causative	19915	No other BP defined	No other BP defined	Out of locus	159052	No other BP defined	No other BP defined	182788	16	α-locus
316	-(α)5.2	HBA1, HBA2	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
317	--GEO	HBA1, HBA2	Exact	18098-L22522	18092-L22516	19233-L25313	15859-L21960	Exact	NG_000006.1:g.32864_42264del9401	Causative	32864	No other BP defined	No other BP defined	42264	172001	No other BP defined	No other BP defined	181401	16	α-locus
318	--SPAN	HBA1, HBA2	Range	04637-L04018	18097-L22521	19233-L25313	15859-L21960	Range	NC_000016.10:g.(169756_170100)_(179044_181595)del	Causative	30619	30963	39907	42458	169756	170100	179044	181595	16	α-locus
319	--MA	HBA1, HBA2	Exact	17214-SP0457-L20489	04624-L04004	04638-L23602	04639-L04020	Exact	NG_000006.1:g.18964_39864del20901	Causative	18964	No other BP defined	No other BP defined	39864	158101	No other BP defined	No other BP defined	179001	16	α-locus
320	--BRIT	HBA1, HBA2	Exact	17214-SP0457-L20489	04624-L04004	19233-L25313	15859-L21960	Exact	NC_000016.10:g.155501_184801del	Causative	16364	No other BP defined	No other BP defined	Out of locus	155501	No other BP defined	No other BP defined	184801	16	α-locus
321	--CL	HBA1, HBA2, HBZ	Exact	04622-L04001	17214-SP0457-L20489	17227-L20554	18102-L20488	Exact	NC_000016.10:g.152451_263801del	Causative	13314	No other BP defined	No other BP defined	Out of locus	152451	No other BP defined	No other BP defined	263801	16	α-locus
322	--CI	HBA1, HBA2	Range	17214-SP0457-L20489	04624-L04004	15859-L21960	Unknown	Range	NC_000016.10:g.(158380_161516)_ (186053_?)	Causative	19243	22379	Out of locus	BP extends beyond the MLPA probes	158380	161516	186053	BP extends beyond the MLPA probes	16	α-locus
323	--CAL	HBA1, HBA2, HBZ	Exact	04926-L23886	04622-L04001	04639-L04020	19233-L25313	Exact	NG_000006.1:g.8464_40664del32201	Causative	8464	No other BP defined	No other BP defined	40664	147601	No other BP defined	No other BP defined	179801	16	α-locus
324	--115	HBA1, HBA2, HBZ	Range	04622-L04001	17214-SP0457-L20489	04639-L04020	19233-L25313	Range	NC_000016.10:g.(13158_13584)_(39907_41256)del	Causative	13158	13584	39907	41256	152295	152721	179044	180293	16	α-locus
325	--RT	HBA1, HBA2, HBZ	Exact	04622-L04001	17214-SP0457-L20489	19233-L25313	15859-L21960	Exact	NC_000016.10:g.151401_188301del	Causative	12264	No other BP defined	No other BP defined	Out of locus	151401	No other BP defined	No other BP defined	188301	16	α-locus
326	--YEM	HBA1, HBA2	Range	17214-SP0457-L20489	04624-L04004	19233-L25313	15859-L21960	Range	NG_000006.1:g.(16201_17547)_(41420_42633)del	Causative	16201	17547	41420	42633	155338	156684	180557	181770	16	α-locus
327	--MC	HBA1, HBA2, HBZ	Exact	04800-L04175	04926-L23886	19233-L25313	15859-L21960	Exact	NC_000016.10:g.139301_182501del	Causative	164	No other BP defined	No other BP defined	Out of locus	139301	No other BP defined	No other BP defined	182501	16	α-locus
328	--CANT	HBA1, HBA2	Range	04637-L04018	18097-L22521	19233-L25313	15859-L21960	Range	NC_000016.10:g.(168531_169756)_(182770_183028)del	Causative	29394	30619	Out of locus	Out of locus	168531	169756	182770	183028	16	α-locus
329	--KOL	HBA1, HBA2, HBZ	Range	04622-L04001	17214-SP0457-L20489	19233-L25313	15859-L21960	Range	NC_000016.10:g.(151719_151746)_(185067_185093)del	Causative	12582	12609	Out of locus	Out of locus	151719	151746	185067	185093	16	α-locus
330	--11.1	HBA1, HBA2	Range	18090-L08415	18098-L22522	19233-L25313	15859-L21960	Range	NG_000006.1:g.(31695_31724)_(42846_42867)del	Causative	31695	31724	42846	42867	170832	170861	181983	182004	16	α-locus
331	--OH	HBA1, HBA2, HBZ	Exact	04926-L23886	04622-L04001	18102-L20488	17212-L13393	Exact	NC_000016.10:g.(149158_152418)_(249560_284571)del	Causative	10021	No other BP defined	No other BP defined	Out of locus	149158	No other BP defined	No other BP defined	284571	16	α-locus
332	(αα)RA	HS40, HBZ	Range	19236-L25316	04799-L04797	18092-L22516	18881-L06288	Range	N/A	Causative	Out of locus	Out of locus	15368	33739	85386	138673	154503	172876	16	α-locus
333	(αα)TI	HS40	Exact	No probe	19236-L25316	04800-L04175	04926-L23886	Exact	NC_000016.10:g.10023_122854del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	10023	No other BP defined	No other BP defined	122854	16	α-locus
334	(αα)IJ	HS40	Range	19236-L25316	04799-L04797	04622-L04001	17214-SP0457-L20489	Range	N/A	Causative	Out of locus	Out of locus	Out of locus	13507	85386	85846	138673	152644	16	α-locus
335	(αα)CMO	HS40, HBZ	Exact	No probe	19236-L25316	17214-SP0457-L20489	04624-L04004	Exact	NC_000016.10:g.10018_157684del	Causative	Out of locus	No other BP defined	No other BP defined	18547	10018	No other BP defined	No other BP defined	157684	16	α-locus
336	(αα)TAT	HS40, HBZ	Exact	No probe	19236-L25316	17214-SP0457-L20489	04624-L04004	Exact	NC_000016.10:g.10020_152823del	Causative	Out of locus	No other BP defined	No other BP defined	13686	10020	No other BP defined	No other BP defined	152823	16	α-locus
337	(αα)MB	HS40	Range	No probe	19236-L25316	04622-L04001	17214-SP0457-L20489	Range	N/A	Causative	Out of locus	Out of locus	Out of locus	13507	28928	36491	138673	152644	16	α-locus
338	(αα)IC	HS40	Exact	No probe	19236-L25316	04800-L04175	04926-L23886	Exact	NC_000016.10:g.10018_131194delinsAC	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	10018	No other BP defined	No other BP defined	131194	16	α-locus
339	(αα)IdF	HS40, HBZ	Exact	No probe	19236-L25316	17214-SP0457-L20489	04624-L04004	Exact	NC_000016.10:g.10020_154449del	Causative	Out of locus	No other BP defined	No other BP defined	15312	10020	No other BP defined	No other BP defined	154449	16	α-locus
1396	Hb Parchman	HBB, HBD	Range	05833-L05335	11883-L12683	21235-L29611	21555-L30397	Range	NG_000007.3:g.[63249_70661del;63571_70985dup]	Causative	63249	63571	70661	70985	5226631	5226955	5234045	5234367	11	β-locus
1397	Hb Lepore-Hollandia	HBB, HBD	Exact	11883-L12683	11883-L12683	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63290_70702del	Causative	63290	No other BP defined	No other BP defined	70702	5226914	No other BP defined	No other BP defined	5234326	11	β-locus
1398	Hb Lepore-Baltimore	HBB, HBD	Exact	05833-L05335	11883-L12683	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63564_70978del	Causative	63564	No other BP defined	No other BP defined	70978	5226638	No other BP defined	No other BP defined	5234052	11	β-locus
1399	Hb Lepore-Boston-Washington	HBB, HBD	Exact	05833-L05335	11883-L12683	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63632_71046del	Causative	63632	No other BP defined	No other BP defined	71046	5226570	No other BP defined	No other BP defined	5233984	11	β-locus
1400	Hb Lepore-Leiden	HBB, HBD	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1401	Hb Miyada	HBB, HBD	Exact	11980-L12803	05836-L06321	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63249_70661dup	Causative	63249	No other BP defined	No other BP defined	70661	5217955	No other BP defined	No other BP defined	5234367	11	β-locus
1402	Hb P-Congo	HBB, HBD	Exact	13619-L15073	05833-L05335	21235-L29611	21555-L30397	Exact	NG_000007.3:g.64557_71923dup	Causative	64557	No other BP defined	No other BP defined	71923	5225693	No other BP defined	No other BP defined	5233059	11	β-locus
1403	Hb P-India	HBB, HBD	Exact	05833-L05335	11883-L12683	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63632_71046dup	Causative	63632	No other BP defined	No other BP defined	71046	5226570	No other BP defined	No other BP defined	5233984	11	β-locus
1404	Hb Hong Kong	HBB, HBD	Exact	11883-L12683	05828-L05332	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63160_70572dup	Causative	63160	No other BP defined	No other BP defined	70572	5227044	No other BP defined	No other BP defined	5234456	11	β-locus
1405	Hb P-Nilotic	HBB, HBD	Exact	05833-L05335	11883-L12683	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63461_70874dup	Causative	63461	No other BP defined	No other BP defined	70874	5226742	No other BP defined	No other BP defined	5234155	11	β-locus
1497	Corfu (δ)0	HBD	Exact	21235-L29611	21555-L30397	05821-L06327	21239-L29615	Exact	NG_000007.3:g.57237_64443del7207	Causative	57237	No other BP defined	No other BP defined	64443	5233173	No other BP defined	No other BP defined	5240379	11	β-locus
1498	Hb Kenya	HBB, HBBP1, HBD, HBG1	Exact	05833-L05335	11883-L12683	21237-L29613	21231-L29607**	Exact	NG_000007.3:g.48194_70985del	Causative	48194	No other BP defined	No other BP defined	70985	5226631	No other BP defined	No other BP defined	5249422	11	β-locus
1499	Black	HBB, HBD	Exact	18251-L27003	18253-L22962	05821-L06327	21239-L29615	Exact	NC_000011.10:g.5153222_5238138delinsAAATA	Causative	59478	No other BP defined	No other BP defined	Out of locus	5153222	No other BP defined	No other BP defined	5238138	11	β-locus
1500	Ghanaian	HBB, HBBP1, HBD	Exact	18251-L27003	18253-L22962	21239-L29615	06400-L05323	Exact	NC_000011.10:g.5158438_5242749del	Causative	54867	No other BP defined	No other BP defined	Out of locus	5157437	No other BP defined	No other BP defined	5242749	11	β-locus
1501	Indian	HBB, HBBP1, HBD	Exact	18253-L22962	11980-L12803	18248-SP0631-L27002	21237-L29613	Exact	NC_000011.10:g.5214446_5247107del	Causative	50509	No other BP defined	No other BP defined	Out of locus	5214446	No other BP defined	No other BP defined	5247107	11	β-locus
1502	Italian 1	HBB, HBD	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1503	Italian 2, Sicilian	HBB, HBD	Exact	11980-L12803	05836-L06321	21555-L30397	05821-L06327	Exact	NC_000011.10:g.59893_72818del	Causative	59893	No other BP defined	No other BP defined	72818	5224797	No other BP defined	No other BP defined	5237743	11	β-locus
1504	SE Asian, Thai (Aγδβ)0	HBB, HBBP1, HBD, HBG1, OR51V1, OR52Z1-OR51V1	Exact	18251-L27003	18253-L22962	05817-L05321	18109-SP0127-L27005	Exact	NC_000011.10:g.5172745_5252029	Causative	45587	No other BP defined	No other BP defined	Out of locus	5172745	No other BP defined	No other BP defined	5252029	11	β-locus
1505	South East Asian (SEA) deletion	HBB	Exact	18253-L22962	11980-L12803	11982-L24242	05824-L05328	Exact	NC_000011.10:g.5201647_5229059del	Causative	68557	No other BP defined	No other BP defined	Out of locus	5201647	No other BP defined	No other BP defined	5229059	11	β-locus
1506	Indian (δβ)0	HBB, HBBP1, HBD	Exact	18253-L22962	11980-L12803	18248-SP0631-L27002	21237-L29613	Exact	NC_000011.10:g.5214461_5247124del	Causative	50492	No other BP defined	No other BP defined	Out of locus	5214461	No other BP defined	No other BP defined	5247124	11	β-locus
1507	Sicilian (δβ)0	HBB, HBD	Exact	11980-L12803	05836-L06321	21235-L29611	21555-L30397	Exact	NG_000007.3:g.64336_77738del	Causative	64336	No other BP defined	No other BP defined	77738	5219878	No other BP defined	No other BP defined	5233280	11	β-locus
1508	Japanese (δβ)0	HBB, HBBP1, HBD	Exact	18246-L30180	18251-L27003	18248-SP0631-L27002	21237-L29613	Exact	NC_000011.10:g.5132468_5246133del	Causative	51483	No other BP defined	No other BP defined	Out of locus	5132468	No other BP defined	No other BP defined	5246133	11	β-locus
1509	Spanish (δβ)0	HBB, HBD	Exact	18246-L30180	18251-L27003	21555-L30397	05821-L06327	Exact	NG_000011.10:g.5144331_5237241del	Causative	60375	No other BP defined	No other BP defined	Out of locus	5144331	No other BP defined	No other BP defined	5237241	11	β-locus
1510	Black (δβ)0	HBB, HBD	Range	05836-L06321	11885-L25666	21555-L30397	05821-L06327	Range	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	Causative	60530	60730	72351	72551	5225065	No other BP defined	5236889	5237086	11	β-locus
1511	East European (δβ)0	HBB, HBD	Exact	05833-L05335	11883-L12683	21555-L30397	05821-L06327	Exact	NG_000007.3:g.61566_70708del	Causative	61566	No other BP defined	No other BP defined	70708	5226908	No other BP defined	No other BP defined	5236050	11	β-locus
1512	Laotian (δβ)0	HBB, HBD	Range	11980-L12803	05836-L06321	21235-L29611	21555-L30397	Range	NG_000007.3:g.(64336_64524)_76866del	Causative	64336	64524	No other BP defined	76866	5220750	No other BP defined	5233092	5233280	11	β-locus
1513	Thai/Vietnamese (δβ)0	HBB, HBD	Exact	11980-L12803	05836-L06321	21235-L29611	21555-L30397	Exact	NG_000007.3:g.64384_76993del	Causative	64384	No other BP defined	No other BP defined	76993	5220623	No other BP defined	No other BP defined	5233232	11	β-locus
1514	Macedonian/Turkish (δβ)0	HBB, HBD	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1515	Turkish (δβ)0	HBB, HBBP1, HBD	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1516	Leiden 7.4 kb (δβ)0	HBB, HBD	Range	11980-L12803	05836-L06321	05821-L06327	21239-L29615	Range	NG_000007.3:g.(59658_64667)_(72019_81668)del	Causative	59658	64667	72019	81668	5215976	5225597	5232949	5237958	11	β-locus
1517	Thai 11.3 (δβ)0	HBB, HBD	Exact	13619-L15073	05833-L05335	21555-L30397	05821-L06327	Exact	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	Causative	60045	No other BP defined	No other BP defined	71313	5226303	No other BP defined	No other BP defined	5237571	11	β-locus
1518	Japanese 2 (δβ)0	HBB, HBBP1, HBD	Exact	11980-L12803	05836-L06321	18248-SP0631-L27002	21237-L29613	Exact	NG_000007.3:g.52036_78987del	Causative	52036	No other BP defined	No other BP defined	78987	5218629	No other BP defined	No other BP defined	5245580	11	β-locus
1519	Indian (Aγδβ)0 (inv)	HBB, HBBP1, HBD, HBG1	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1520	German (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Range	18251-L27003	18253-L22962	05817-L05321	18109-SP0127-L27005	Range	NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del	Causative	45922	46319	Out of locus	Out of locus	BP starts from the telomere	5198976	5251297	5251694	11	β-locus
1521	Cantonese (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1522	Malaysian-1 (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1523	Malaysian-2 (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Range	18253-L22962	11980-L12803	21230-L30179*	05817-L05321	Range	NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del	Causative	47376	47553	Out of locus	Out of locus	5207467	5208467	5250061	5250240	11	β-locus
1524	Turkish (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Exact	11980-L12803	05836-L06321	05817-L05321	18109-SP0127-L27005	Exact	NG_000007.3:g.45410_81665del36256	Causative	45410	No other BP defined	No other BP defined	81665	5215951	No other BP defined	No other BP defined	5252206	11	β-locus
1525	Belgian (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Range	18251-L27003	18253-L22962	18248-SP0631-L27002	21237-L29613	Range	NC_000011.10:g.(5199863_5199904)_(5248162_5248223)del	Causative	49393	49454	Out of locus	Out of locus	5199863	5199904	5248162	5248223	11	β-locus
1526	Black (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Range	18253-L22962	11980-L12803	21237-L29613	21231-L29607**	Range	NC_000011.10:g.5212727_5248576del	Causative	49040	No other BP defined	No other BP defined	Out of locus	5212727	No data available	No data available	5248576	11	β-locus
1527	Chinese (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Exact	No probe	18244-L22953	21237-L29613	21231-L29607**	Exact	NC_000011.10: 169893_5248840del78947bp	Causative	48795	No other BP defined	No other BP defined	Out of locus	169893	No other BP defined	No other BP defined	5248840	11	β-locus
1528	Yunnanese (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Exact	18251-L27003	18253-L22962	21230-L30179*	05817-L05321	Exact	NC_000011.10:g.5182845_5249973del	Causative	47643	No other BP defined	No other BP defined	Out of locus	5182845	No other BP defined	No other BP defined	5249973	11	β-locus
1530	Italian (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Exact	18246-L30180	18251-L27003	21237-L29613	21231-L29607**	Exact	NC_000011.10:g.5194458_5249516del	Causative	48100	No other BP defined	No other BP defined	Out of locus	5194458	No other BP defined	No other BP defined	5249516	11	β-locus
1531	Canadian (Aγδβ)0	HBB, HBBP1, HBD, HBG1	Exact	18251-L27003	18253-L22962	05817-L05321	18109-SP0127-L27005	Exact	NC_000011.10:g.5196589_5251715delinsTA	Causative	45901	No other BP defined	No other BP defined	Out of locus	5196589	No other BP defined	No other BP defined	5251715	11	β-locus
1532	Leiden 69.5	HBB, HBBP1, HBD, HBG1	Range	18251-L27003	18253-L22962	05817-L05321	18109-SP0127-L27005	Range	NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del	Causative	46384	49432	Out of locus	Out of locus	5167906	5178684	5248184	5251232	11	β-locus
1533	49.3 kb Gγ(Aγδβ)0 Asian del	HBB, HBBP1, HBD, HBG1	Exact	18253-L22962	11980-L12803	21230-L30179*	05817-L05321	Exact	NC_000011.10:g.5201244_5250542del	Causative	47074	No other BP defined	No other BP defined	Out of locus	5201244	No other BP defined	No other BP defined	5250542	11	β-locus
1534	Anglo-Saxon (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	18253-L22962	11980-L12803	05804-L27001	18249-L24239	Exact	NC_000011.8:g.5204501_5300223del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	5204501	No other BP defined	No other BP defined	5300223	11	β-locus
1535	Irish (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	18246-L30180	18251-L27003	05804-L27001	18249-L24239	Exact	NC_000011.8:g.5110112_5312961del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	5110112	No other BP defined	No other BP defined	5312961	11	β-locus
1536	Canadian (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1537	Scottish - Irish	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1538	English I (εγδβ)0	HBE1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1539	Mexican (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1540	Hispanic (εγδβ)0	HBE1, HBG1, HBG2, LCRB	Exact	18248-SP0631-L27002	21237-L29613	05807-L22540	05806-L22542	Exact	NG_000007.3:g.9430_49213del	Causative	9430	No other BP defined	No other BP defined	49213	5248403	No other BP defined	No other BP defined	5288186	11	β-locus
1541	Croatian (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Range	18246-L30180	18251-L27003	05804-L27001	18249-L24239	Range	NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del	Causative	2520	11754	Out of locus	Out of locus	5151491	5158092	5285862	5295096	11	β-locus
1542	Dutch I (εγδβ)0	HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	11982-L24242	05824-L05328	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10:g.5229432_5329263del	Causative	Out of locus	No other BP defined	No other BP defined	68184	5229432	No other BP defined	No other BP defined	5329263	11	β-locus
1543	English II	HBE1, LCRB	Exact	05815-L05319	05813-L05317	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10:g.5262849_5360616del	Causative	Out of locus	No other BP defined	No other BP defined	34767	5262849	No other BP defined	No other BP defined	5360616	11	β-locus
1544	English III	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1545	English IV	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	18251-L27003	18253-L22962	18247-SP0630-L27000	No probe	Exact	NC_000011.10:g.5156866_5595894del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	5156866	No other BP defined	No other BP defined	5595894	11	β-locus
1546	Chilean	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
1547	Dutch II	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB, OR51B5, OR51M1, OR51V1	Range	No probe	18246-L30180	18247-SP0630-L27000	No probe	Range	NC_000011.10:g.(?_4999945)_(5409809_5430440)del	Causative	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	BP extends beyond the MLPA probes	4999945	5409809	5430440	11	β-locus
1548	Dutch III	HBE1, HBG1, HBG2, LCRB	Exact	21237-L29613	21231-L29607**	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA	Causative	Out of locus	No other BP defined	No other BP defined	48666	5248950	No other BP defined	No other BP defined	5360936	11	β-locus
1549	Dutch IV	HBE1, HBG1, HBG2, LCRB, OR51B5, OR51B6	Range	21239-L29615	06400-L05323	18247-SP0630-L27000	No probe	Range	NC_000011.10:g.(5242034_5248184)_(5440568_5470849)del	Causative	Out of locus	Out of locus	49432	55582	5242034	5248184	5440568	5470849	11	β-locus
1550	Dutch V	LCRB	Range	05815-L05319	05813-L05317	18247-SP0630-L27000	No probe	Range	NC_000011.10:g.(5257971_5269857)_(5409809_5430440)del	Causative	Out of locus	Out of locus	27759	39645	5257971	5269857	5409809	5430440	11	β-locus
1551	Dutch VI	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Range	Unknown	05827-L06319	18249-L24239	18247-SP0630-L27000	Range	NC_000011.10:g.(?_5227218)_(5373082_5382848)del	Causative	Out of locus	Out of locus	70398	BP extends beyond the MLPA probes	BP extends beyond the MLPA probes	5227218	5373082	5382848	11	β-locus
1552	Japanese	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	No probe	18244-L22953	18247-SP0630-L27000	No probe	Exact	NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	4600605	No other BP defined	No other BP defined	6019332	11	β-locus
1553	French	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
2122	125 bp deletion	HBB	Exact	05828-L05332	05827-L06319	05827-L06319	11982-L24242	Exact	NG_000007.3:g.70360_70485del125	Causative	70360	No other BP defined	No other BP defined	70485	5227131	No other BP defined	No other BP defined	5227256	11	β-locus
2123	7719 bp deletion	HBB	Exact	11980-L12803	05836-L06321	13619-L15073	05833-L05335	Exact	NG_000007.3:g.71550_79270del7719	Causative	71550	No other BP defined	No other BP defined	79270	5218346	No other BP defined	No other BP defined	5226066	11	β-locus
2124	Caucasian HPFH	HBB	Range	18253-L22962	11980-L12803	11982-L24242	05824-L05328	Exact	NC_000011.10:g.5201455_5229279delins5223936_5223960	Causative	0	No other BP defined	No other BP defined	Out of locus	5201455	No other BP defined	No other BP defined	5229279	11	β-locus
2125	Afghan	HBB	Exact	05833-L05335	11883-L12683	05827-L06319	11982-L24242	Exact	NG_000007:g.70067_70976del	Causative	70067	No other BP defined	No other BP defined	70976	5226640	No other BP defined	No other BP defined	5227549	11	β-locus
2149	N/A	HBB, HBBP1, HBD, HBG1, HBG2	Exact	11883-L12683	11883-L12683	21230-L30179*	05815-L05319	Exact	NG_000007.3:g.42946_70654del	Causative	42946	No other BP defined	No other BP defined	70654	5226962	No other BP defined	No other BP defined	5254670	11	β-locus
2150	1357 bp deletion	HBB	Exact	13619-L15073	05833-L05335	05827-L06319	11982-L24242	Exact	NG_000007.3:g.69997_71353del1357	Causative	69997	No other BP defined	No other BP defined	71353	5226263	No other BP defined	No other BP defined	5227619	11	β-locus
2153	Kabylia deletion/insertion	HBB	Exact	05836-L06321	11885-L25666	05827-L06319	11982-L24242	Exact	NG_000007.3:g.70417_72458delinsATAAG	Causative	70417	No other BP defined	No other BP defined	72458	5225158	No other BP defined	No other BP defined	5227199	11	β-locus
2154	French deletion/insertion	HBB, HBD	Exact	11980-L12803	05836-L06321	21555-L30397	05821-L06327	Exact	NG_000007.3:g.[61399_61400insC; 61402_81144del]	Causative	61402	No other BP defined	No other BP defined	81144	5216473	No other BP defined	No other BP defined	5236214	11	β-locus
2155	French West-Indies deletion/insertion	HBB, HBD	Exact	11980-L12803	05836-L06321	05821-L06327	21239-L29615	Exact	NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG	Causative	57155	No other BP defined	No other BP defined	80887	5216729	No other BP defined	No other BP defined	5240462	11	β-locus
2156	Algerian HPFH deletion	HBB, HBD	Exact	11980-L12803	05836-L06321	05821-L06327	21239-L29615	Exact	NG_000007.3:g.57141_81002del; 81008delA	Causative	57141	No other BP defined	No other BP defined	81006	5216610	No other BP defined	No other BP defined	5240475	11	β-locus
2157	Indian	HBB	Exact	13619-L15073	05833-L05335	05824-L05328	18108-SP0126-L15076	Exact	NG_000007.3:g.67357_71413del	Causative	67357	No other BP defined	No other BP defined	71413	5226203	No other BP defined	No other BP defined	5230259	11	β-locus
2158	Pakistani I	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	18251-L27003	18253-L22962	18247-SP0630-L27000	No probe	Exact	NC_000011.10:g.5194461_5700474delins[250inv]	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	5194461	No other BP defined	No other BP defined	5700474	11	β-locus
2159	(εγδβ)0 with α triplication	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
2161	French (εγδβ)0 insertion/deletion	LCRB	Exact	12189-L30182	06395-L05315	05806-L22542	05804-L27001	Exact	NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv]	Causative	7751	No other BP defined	No other BP defined	18905	5278711	No other BP defined	No other BP defined	5289865	11	β-locus
2163	Norwegian (εγδβ)0	HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	11982-L24242	05824-L05328	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10:g.5228098_5358569del	Causative	69518	No other BP defined	No other BP defined	Out of locus	5228098	No other BP defined	No other BP defined	5358569	11	β-locus
2164	Tennessean (εγδβ)0	LCRB	Exact	05813-L05317	12189-L30182	21240-L29616	05807-L22540	Exact	NG_000007.3:g.10053_21931del	Causative	10053	No other BP defined	No other BP defined	21931	5275685	No other BP defined	No other BP defined	5287563	11	β-locus
2165	Puerto Rican (εγδβ)0	LCRB	Exact	05813-L05317	12189-L30182	05806-L22542	05804-L27001	Exact	NG_000007.3:g.2903_25432del	Causative	2903	No other BP defined	No other BP defined	25432	5272169	No other BP defined	No other BP defined	5294713	11	β-locus
2167	Asian Indian (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
2190	CD 62-83 (+65 bp)	HBB	Exact	No probe	No probe	No probe	No probe	Exact	HBB:c.187_251dup	Causative	70911	No other BP defined	No other BP defined	70975	5226641	No other BP defined	No other BP defined	5226705	11	β-locus	This is a special case where MLPA probes could not be detected due to the size of the duplication.
2230	-α3.7 (type II)	α3.7 hybrid, HBA1, HBA2	Exact	S0585-SP0043-L09493	18096-L22520	15857-L21812	08499-L23594	Exact	NG_000006.1:g.34478_38288del	Causative	34478	No other BP defined	No other BP defined	38288	173615	No other BP defined	No other BP defined	177425	16	α-locus
2231	-α3.7 (type III)	α3.7 hybrid, HBA1, HBA2	Exact	S0585-SP0043-L09493	18096-L22520	15857-L21812	08499-L23594	Exact	NG_000006.1:g.34570_38381del	Causative	34570	No other BP defined	No other BP defined	38381	173707	No other BP defined	No other BP defined	177518	16	α-locus
2232	-α27.6	HBA2, HBZ	Exact	04926-L23886	04622-L04001	14855-L23604	18093-L22517	Exact	NG_000006.1:g.9079_36718del27640	Causative	9079	No other BP defined	No other BP defined	36718	148216	No other BP defined	No other BP defined	175855	16	α-locus
2233	-ζ	HBZ	Exact	04622-L04001	17214-SP0457-L20489	04624-L04004	04637-L04018	Exact	N/A	Causative	13718	No other BP defined	No other BP defined	26068	152644	No other BP defined	No other BP defined	165205	16	α-locus
2234	-α16.6	HBA2, HBZ	Range	17214-SP0457-L20489	04624-L04004	08494-L08417	14855-L23604	Range	NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv	Causative	19842	19845	36479	36486	158979	158982	175616	175623	16	α-locus
2235	α-αΔ970	HBA1	Exact	14855-L23604	18093-L22517	18099-L22524	18881-L06288	Exact	NG_000006.1:g.36599_37568delinsTAG	Causative	36599	No other BP defined	No other BP defined	37568	175736	No other BP defined	No other BP defined	176705	16	α-locus
2236	--DUTCH I	HBA1, HBA2, HBZ	Exact	04926-L23886	04622-L04001	04639-L04020	19233-L25313	Exact	NG_000006.1:g.7622_41156del	Causative	7622	No other BP defined	No other BP defined	41156	146759	No other BP defined	No other BP defined	180309	16	α-locus
2237	--AW	HBA1, HBA2	Exact	18090-L08415	18098-L22522	04638-L23602	04639-L04020	Exact	NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT	Causative	32143	No other BP defined	No other BP defined	40317	171280	No other BP defined	No other BP defined	179454	16	α-locus
2238	--BGS	HS40, HBA1, HBA2, HBZ	Exact	19236-L25316	04799-L04797	04638-L23602	04639-L04020	Exact	NC_000016.10:g.47749_179374del	Causative	Out of locus	No other BP defined	No other BP defined	40237	47749	No other BP defined	No other BP defined	179374	16	α-locus
2239	--CAMPANIA	HBA1, HBA2, HBZ	Range	04926-L23886	04622-L04001	04638-L23602	04639-L04020	Range	NC_000016.10:g.(8635_8924)_(39835_40133)del	Causative	8635	8924	39835	40133	147772	148061	178972	179270	16	α-locus
2240	--FIL-2	HBA1, HBA2	Exact	17214-SP0457-L20489	04624-L04004	19233-L25313	15859-L21960	Exact	NC_000016.10:g.156188_184103del	Causative	17051	No other BP defined	No other BP defined	Out of locus	156188	No other BP defined	No other BP defined	184103	16	α-locus
2241	--ED	HS40, HBA1, HBA2, HBZ	Range	19236-L25316	04799-L04797	19233-L25313	15859-L21960	Range	NC_000016.10:g.(110582_113386)_(187266_188773)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	110582	113386	187266	188773	16	α-locus
2242	--GP	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	19233-L25313	15859-L21960	Range	NC_000016.10:g.(43803_47123)_(187266_188649)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	43803	47123	187266	188649	16	α-locus
2243	(αα)AS	HS40	Range	19236-L25316	04799-L04797	04800-L04175	04926-L23886	Range	N/A	Causative	Out of locus	Out of locus	Out of locus	Out of locus	53608	85386	85386	138673	16	α-locus
2244	(αα)JM	HS40, HBZ	Range	19236-L25316	04799-L04797	18092-L22516	18881-L06288	Range	N/A	Causative	Out of locus	Out of locus	15368	33739	53608	54828	154503	172876	16	α-locus
2245	(αα)MM	HS40	Range	No probe	19236-L25316	04926-L23886	04622-L04001	Range	NC_000016.10:g.(?_53322)_(141396_143702)del	Causative	BP extends beyond the MLPA probes	Out of locus	2259	4565	BP extends beyond the MLPA probes	53322	141396	143702	16	α-locus
2246	(αα)L	HS40	Range	No probe	19236-L25316	04624-L04004	04637-L04018	Range	NC_000016.10:g.(?_55799)_(152345_162796)del	Causative	BP extends beyond the MLPA probes	Out of locus	13208	23659	BP extends beyond the MLPA probes	55799	152345	162796	16	α-locus
2247	(αα)SN	HS40, HBZ	Range	19236-L25316	04799-L04797	18092-L22516	18881-L06288	Range	N/A	Causative	Out of locus	Out of locus	15368	33739	85386	138673	154503	172876	16	α-locus
2248	(αα)Sco	HS40	Range	19236-L25316	04799-L04797	04800-L04175	04926-L23886	Range	NC_000016.10:g.(93618_93635)_(141631_141648)del	Causative	Out of locus	Out of locus	2494	2511	93618	93635	141631	141648	16	α-locus
2249	(αα)ZW	HS40	Exact	No probe	No probe	No probe	No probe	Exact	NC_000016.10:g. 90778_106773del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	90778	No other BP defined	No other BP defined	106773	16	α-locus	This is a special case where MLPA probes could not be detected due to the size of the deletion.
2250	(αα)RSR	HS40, HBZ	Range	19236-L25316	04799-L04797	18092-L22516	18881-L06288	Range	N/A	Causative	Out of locus	Out of locus	15368	33739	53828	57669	154503	172876	16	α-locus
2251	(αα)MCu	HS40, HBZ	Range	19236-L25316	04799-L04797	18092-L22516	18881-L06288	Range	N/A	Causative	Out of locus	Out of locus	15368	33739	53828	57669	154503	172876	16	α-locus
2252	--BR	HS40, HBA1, HBA2, HBZ	Exact	No probe	15859-L21960	15859-L21960	17227-L20554	Exact	NC_000016.10:g.11555_229482del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	11555	No other BP defined	No other BP defined	229482	16	α-locus
2253	--ZW	HS40, HBA1, HBA2, HBZ	Exact	No probe	15859-L21960	15859-L21960	17227-L20554	Exact	NC_000016.10:g.11555_229482del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	11555	No other BP defined	No other BP defined	229482	16	α-locus
2254	--JY	HS40, HBA1, HBA2, HBZ	Range	19236-L25316	04799-L04797	15859-L21960	17227-L20554	Range	N/A	Causative	Out of locus	Out of locus	Out of locus	Out of locus	53608	54828	188969	229449	16	α-locus
2255	--LC	HS40, HBA1, HBA2, HBZ	Range	19236-L25316	04799-L04797	15859-L21960	17227-L20554	Range	N/A	Causative	Out of locus	Out of locus	Out of locus	Out of locus	53828	57669	188969	229449	16	α-locus
2256	--VR	HS40, HBA1, HBA2, HBZ	Range	19236-L25316	04799-L04797	15859-L21960	17227-L20554	Range	N/A	Causative	Out of locus	Out of locus	Out of locus	Out of locus	53608	54828	188969	229449	16	α-locus
2257	--JT	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17212-L13393	17613-L23601	Range	NC_000016.10:g.(44035_44092)_(312033_312090)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	44035	44092	312033	312090	16	α-locus
2258	--AB	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17613-L23601	No probe	Range	NC_000016.10:g.(?_55799)_(360870_410354)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	55799	360870	410354	16	α-locus
2259	--GZ	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17613-L23601	No probe	Range	NC_000016.10:g.(?_53322)_(879639_910965)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	53322	879639	910065	16	α-locus
2260	Dutch II	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17212-L13393	17613-L23601	Range	NC_000016.10:g.(?_55799)_(284538_298092)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	55799	284538	298092	16	α-locus
2261	--MK	HS40, HBA1, HBA2, HBZ	Range	04799-L04797	04800-L04175	17212-L13393	17613-L23601	Range	NC_000016.10:g.(113696_130566)_(298093_ 331093)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	113696	130566	298093	331093	16	α-locus
2262	--80	HS40, HBA1, HBA2, HBZ	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
2263	α-ZF	HBA1	Exact	S0585-SP0043-L09493	18096-L22520	19233-L25313	15859-L21960	Exact	NC_000016.10:g.174046_192396del	Causative	34909	No other BP defined	No other BP defined	Out of locus	174046	No other BP defined	No other BP defined	192396	16	α-locus
2264	--Brazil	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17613-L23601	No probe	Range	NC_000016.10:g.(?_55799)_(986613_1063737)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	55799	986613	1063737	16	α-locus
2265	--PV	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17613-L23601	No probe	Range	NC_000016.10:g.(?_55799)_(1625950_1740473)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	55799	1625950	1740473	16	α-locus
2266	--HN	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17613-L23601	No probe	Range	NC_000016.10:g.(?_55799)_(1923864_ 1939057)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	55799	1923864	1939057	16	α-locus
2267	--FT	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17613-L23601	No probe	Range	NC_000016.10:g.(?_55799)_(1857769_1890275)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	Out of locus	BP extends beyond the MLPA probes	55799	1857769	1890275	16	α-locus
2268	--BA	HS40, HBA1, HBA2, HBZ	Exact	No probe	19236-L25316	17613-L23601	No probe	Exact	NC_000016.10:g.0_772369del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	BP starts from the telomere	No other BP defined	No other BP defined	772369	16	α-locus
2269	--TN	HS40, HBA1, HBA2, HBZ	Exact	No probe	19236-L25316	17613-L23601	No probe	Exact	NC_000016.10:g.0_976709del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	BP starts from the telomere	No other BP defined	No other BP defined	976709	16	α-locus
2270	--BO	HS40, HBA1, HBA2, HBZ	Exact	No probe	19236-L25316	17613-L23601	No probe	Exact	NC_000016.10:g.0_1896761del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	BP starts from the telomere	No other BP defined	No other BP defined	1896761	16	α-locus
2271	--IM	HS40, HBA1, HBA2, HBZ	Exact	No probe	19236-L25316	17613-L23601	No probe	Exact	NC_000016.10:g.0_2021644del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	BP starts from the telomere	No other BP defined	No other BP defined	2021644	16	α-locus
2272	--LIN	HS40, HBA1, HBA2, HBZ	Exact	No probe	19236-L25316	17613-L23601	No probe	Exact	NC_000016.10:g.0_2023655del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	BP starts from the telomere	No other BP defined	No other BP defined	2023655	16	α-locus
2273	--GS	HS40, HBA1, HBA2, HBZ	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
2283	South-Italy	HBB	Exact	18251-L27003	18253-L22962	05824-L05328	18108-SP0126-L15076	Exact	NC_000011.10:g.5164564_5230714del	Causative	66902	No other BP defined	No other BP defined	Out of locus	5164564	No other BP defined	No other BP defined	5230714	11	β-locus
2418	Swiss (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Range	No probe	18244-L22953	18247-SP0630-L27000	No probe	Range	NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	4002734	4002784	6907712	6907762	11	β-locus
2419	Senegalese δ(0)β(+)	HBB, HBD	Range	11883-L12683	11883-L12683	21235-L29611	21555-L30397	Range	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	Causative	63154	63209	70570	70625	5226991	5227046	5234407	5234462	11	β-locus
2430	203 bp deletion	HBA2	Exact	04633-L23748	15857-L21812	S0585-SP0043-L09493	18096-L22520	Exact	NG_000006.1:g.34305_34507del203	Causative	34305	No other BP defined	No other BP defined	34507	173442	No other BP defined	No other BP defined	173644	16	α-locus
2475	21.9 kb deletion with 29 bp insertion	HBA2, HBZ	Exact	17214-SP0457-L20489	04624-L04004	08494-L08417	14855-L23604	Exact	NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT]	Causative	14373	No other BP defined	No other BP defined	36299	153502	No other BP defined	No other BP defined	175436	16	α-locus
2479	Toledo	LCRB	Exact	06395-L05315	21238-L30181	21238-L30181	21240-L29616	Exact	NG_000007.3:g.11835_13826del	Causative	11835	No other BP defined	No other BP defined	13826	5283790	No other BP defined	No other BP defined	5285781	11	β-locus
2497	49.98 kb (δβ)0 Indian del	HBB, HBBP1, HBD	Range	18251-L27003	18253-L22962	06400-L05323	18248-SP0631-L27002	Range	NC_000011.10:g.5194285_5244267del	Causative	53349	No data available	No data available	Out of locus	5194285	No data available	No data available	5244267	11	β-locus
2498	86.7 kb (Αγδβ)0 Indian del	HBB, HBBP1, HBD, HBG1	Exact	18251-L27003	18253-L22962	21230-L30179*	05817-L05321	Exact	NC_000011.10:g.5164124_5250830delinsTG	Causative	46786	No other BP defined	No other BP defined	Out of locus	5164124	No other BP defined	No other BP defined	5250830	11	β-locus
2548	Inv-Del English V	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	21237-L29612	21231-L29607**	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965	Causative	Out of locus	No other BP defined	No other BP defined	49080	5253454	No other BP defined	No other BP defined	5375965	11	β-locus
2550	African I duplication	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	05833-L05335	11883-L12683	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	Neutral	Out of locus	No other BP defined	No other BP defined	70731	5226885	No other BP defined	No other BP defined	5372677	11	β-locus
2551	Austrian I	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
2554	-α28.5	HBA2, HBZ	Exact	04926-L23886	04622-L04001	18880-L24428	08494-L08417	Exact	NG_000006.1g.7065_35627del28563	Causative	7065	No other BP defined	No other BP defined	35627	146202	No other BP defined	No other BP defined	174764	16	α-locus
2555	α12	HBA1, HBA2	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
2561	ααα(anti-3.7)	HBA1, HBA2	Exact	18881-L06288	08498-L08422	08498-L21607	04633-L23600	Exact	NG_000006.1:g.34247_38050dup	Modifier	34247	No other BP defined	No other BP defined	38050	173384	No other BP defined	No other BP defined	177187	16	α-locus
2562	(αα)HS40del	HS40	Range	No probe	19236-L25316	04926-L23886	04622-L04001	Range	NC_000016.10:g.(?_53625)_(113702_143677)del	Causative	BP extends beyond the MLPA probes	Out of locus	Out of locus	4540	BP extends beyond the MLPA probes	53625	113702	143677	16	α-locus
2566	Caribbean	LCRB	Exact	06395-L05315	06395-L05315	05806-L22542	05804-L27001	Exact	NG_000007.3:g.8510_13369del	Causative	8510	No other BP defined	No other BP defined	13369	5284241	No other BP defined	No other BP defined	5289100	11	β-locus
2567	BS duplication	HS40, HBA1, HBA2, HBZ	Range	19236-L25316	04799-L04797	17613-L23601	No probe	Range	NC_000016.10:g.(85585_100579)_ (360915_410354)dup	Modifier	Out of locus	Out of locus	Out of locus	Out of locus	85585	100579	360915	410354	16	α-locus
2568	FD duplication	HS40, HBA1, HBA2, HBZ	Exact	19236-L25316	04799-L04797	19233-L25313	15859-L21960	Range	NC_000016.10:g.55826_(185840_187594)dup	Modifier	Out of locus	No other BP defined	Out of locus	Out of locus	55826	No other BP defined	185840	187594	16	α-locus
2569	ααα(anti-4.2)	HBA2	Range	18090-L08415	18098-L22522	S0585-SP0043-L09493	18096-L22520	Range	NG_000006.1:g.(31957_31978)_(34525_34544)dup	Modifier	31957	31978	34525	34544	171094	171115	173662	173681	16	α-locus
2570	Sardinian duplication	HS40, HBA1, HBA2, HBZ	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Modifier	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
3018	--NOR	HBA1, HBA2	Exact	18090-L08415	18098-L22522	19233-L25313	15859-L21960	Exact	NC_000016.10:g.170694_184101del	Causative	31577	No other BP defined	No other BP defined	Out of locus	170694	No other BP defined	No other BP defined	184101	16	α-locus
3020	--DANE	HBA1, HBA2, HBZ	Exact	04926-L23886	04622-L04001	04638-L23602	04639-L04020	Exact	NG_000006.1: g.8800_40007del31208	Causative	8800	No other BP defined	No other BP defined	40007	147938	No other BP defined	No other BP defined	179144	16	α-locus
3021	--JAL	HBA1, HBA2, HBZ	Range	04622-L04001	17214-SP0457-L20489	04638-L23602	04639-L04020	Range	NC_000016.10:g.(149437_149482)_(179595_179654)del	Causative	10300	10345	40458	40517	149437	149482	179595	179654	16	α-locus
3022	--LOD	HS40, HBA1, HBA2, HBZ	Range	No probe	19236-L25316	17227-L20554	18102-L20488	Range	NC_000016.10:g.(45349_45393)_(262286_262330)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	45349	45393	262286	262330	16	α-locus
3067	--MEX1	HBA1, HBA2	Range	18092-L22516	18881-L06288	04639-L04020	19233-L25313	Range	NG_000006.1:g.3(33114_33812)_(40649_42021)del	Causative	33114	33812	40649	42021	172251	172949	179786	181158	16	α-locus
3068	--MEX2	HS40, HBA1, HBA2, HBZ	Range	04799-L04797	04800-L04175	17227-L20554	18102-L20488	Range	NC_000016.10:g.(113775_130542)_(208161_249560)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	113775	130542	208161	249560	16	α-locus
3070	αααα282	HS40, HBA1, HBA2, HBZ, NPRL3	Exact	No probe	19236-L25316	15859-L21960	17227-L20554	Exact	NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200]	Modifier	Out of locus	No other BP defined	No other BP defined	Out of locus	10001	No other BP defined	No other BP defined	232200	16	α-locus
3071	--235	HS40, HBA1, HBA2, HBZ, NPRL3	Exact	No probe	19236-L25316	19233-L25313	15859-L21960	Exact	NC_000016.10:g.10001_185264del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	10001	No other BP defined	No other BP defined	185264	16	α-locus
3072	125 bp deletion	HBA1	Exact	No probe	No probe	No probe	No probe	Exact	NG_000006.1: g.37040_37164del	Neutral	37040	No other BP defined	No other BP defined	37164	176177	No other BP defined	No other BP defined	176301	16	α-locus	This is a special case where MLPA probes could not be detected due to the size of the deletion.
3073	Italian (εγδβ)0 deletion	HBB, HBBP1, HBD, HBE1, HBG1, HBG2	Exact	18251-L27003	18253-L22962	18249-L24239	18247-SP0630-L27000	Exact	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	5194397	No other BP defined	No other BP defined	5357192	11	β-locus
3074	(αα)JX	HS40	Exact	19236-L25316	04799-L04797	04800-L04175	04926-L23886	Exact	NC_000016.10:g.113161_113902del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	113161	No other BP defined	No other BP defined	113902	16	α-locus
3076	αααα391	HS40, HBA1, HBA2, HBZ, NPRL3	Exact	19236-L25316	04799-L04797	17613-L23601	No probe	Exact	NC_000016.10:g.101440_492029dup	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	101440	No other BP defined	No other BP defined	492029	16	α-locus
3112	African II duplication	HBB, HBBP1, HBD, HBE1, HBG1, HBG2	Exact	18244-L22953	18246-L30180	05815-L05319	05813-L05317	Exact	NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938	Neutral	28678	No other BP defined	No other BP defined	Out of locus	4619102	No other BP defined	No other BP defined	5268938	11	β-locus
3142	-α6.3	HBA2	Exact	18097-L22521	18090-L08415	18093-L22517	18099-L22524	Exact	NG_000006.1:g.31022_37366del6344	Causative	31022	No other BP defined	No other BP defined	37366	170159	No other BP defined	No other BP defined	176503	16	α-locus
3214	44.6 kb deletion	HBA1, HBA2, HBM, HBZ	Exact	04926-L23886	04622-L04001	19233-L25313	15859-L21960	Exact	NC_000016.10:g.144215_188841del	Causative	5078	No other BP defined	No other BP defined	Out of locus	144215	No other BP defined	No other BP defined	188841	16	α-locus
3215	--Braz	HBA1, HBA2	Range	04637-L04018	18097-L22521	18102-L20488	17212-L13393	Range	NC_000016.10:g.(167305_169853)_(239884_271794)del	Causative	28168	30716	Out of locus	Out of locus	167305	169853	239884	271794	16	α-locus
3244	−KOZANI	HBA1, HBA2, HBZ	Range	04799-L04797	04800-L04175	17613-L23601	No probe	Range	NC_000016.10:g.(113686_143638)_(407521_?)del	Causative	Out of locus	4501	Out of locus	0	113686	143638	407521	BP extends beyond the MLPA probes	16	α-locus
3255	--MEX3	HBA1, HBA2, HBM, HBZ	Exact	04622-L04001	17214-SP0457-L20489	19233-L25313	15859-L21960	Exact	NC_000016.10:g.151479_182582del	Causative	12342	No other BP defined	No other BP defined	Out of locus	151479	No other BP defined	No other BP defined	182582	16	α-locus
3258	--NFLD	HBA1, HBA2	Exact	04637-L04018	18097-L22521	17227-L20554	18102-L20488	Exact	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	Causative	30060	No other BP defined	No other BP defined	Out of locus	169197	No other BP defined	No other BP defined	259919	16	α-locus
3265	α-globin cluster triplication	HS40, HBA1, HBA2, HBM, HBZ	Range	19236-L25316	04799-L04797	15859-L21960	17227-L20554	Range	NC_000016.10:g.(53322_113530)_(181203_206337)dup	Modifier	Out of locus	Out of locus	Out of locus	Out of locus	53322	113530	181203	206337	16	α-locus
3268	811 bp deletion	HBA2	Exact	18098-L22522	18092-L22516	18092-L22516	18092-L22516	Exact	NG_000006.1:g.32945_33755	Causative	32945	No other BP defined	No other BP defined	33755	172082	No other BP defined	No other BP defined	172892	16	α-locus
3270	Chinese I (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, OR51V1	Exact	18244-L22953	18246-L30180	05813-L05317	12189-L30182	Exact	NC_000011.10:g.5036736_5270337del	Causative	27279	No other BP defined	No other BP defined	Out of locus	5036736	No other BP defined	No other BP defined	5270337	11	β-locus
3273	--VS	HS40, AXIN1, HBA1, HBA2, HBM, HBZ	Exact	19236-L25316	04799-L04797	17613-L23601	No probe	Exact	NC_000016.10:g.(100364_105222)_(376261_986851)del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	100364	No other BP defined	No other BP defined	986851	16	α-locus
3274	--CBR	HS40, HBA1, HBA2, HBM, HBZ	Range	No probe	19236-L25316	04639-L04020	19233-L25313	Range	NC_000016.10:g.(?_53322)_(177893_179815)del	Causative	BP extends beyond the MLPA probes	Out of locus	38756	40678	BP extends beyond the MLPA probes	53322	177893	179815	16	α-locus
3275	(αα)ALT	HS40	Exact	No probe	No probe	No probe	No probe	Exact	NC_000016.10:g.103193_106553delins35	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	103193	No other BP defined	No other BP defined	106553	16	α-locus	This is a special case where MLPA probes could not be detected due to the size of the deletion.
3277	538 bp deletion	HBB	Exact	11883-L12683	11883-L12683	05827-L06319	11982-L24242	Exact	HBB:c.-464_74del \| NG_000007.3:g.70131_70668del	Causative	70131	No other BP defined	No other BP defined	70668	5226948	No other BP defined	No other BP defined	5227485	11	β-locus
3283	--JS	HBA1, HBA2	Exact	18880-L24428	08494-L08417	15857-L21812	08499-L23594	Exact	NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT	Causative	35801	No other BP defined	No other BP defined	38338	174938	No other BP defined	No other BP defined	177475	16	α-locus
3284	--PG	HS40, AXIN1, HBA1, HBA2, HBM, HBZ, NPRL3	Exact	19236-L25316	04799-L04797	17613-L23601	No probe	Exact	NC_000016.10:g.93628_542759del450131	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	93628	No other BP defined	No other BP defined	542759	16	α-locus
3292	15 kb deletion	HBA1, HBA2, HBM	Exact	18092-L22516	18881-L06288	19233-L25313	15859-L21960	Exact	NC_000016.10:g.172736_187935del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	172736	No other BP defined	No other BP defined	187935	16	α-locus
3293	97 kb deletion	HS40	Exact	19236-L25316	04799-L04797	17214-SP0457-L20489	04624-L04004	Exact	NC_000016.10:g.56407_153678del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	56407	No other BP defined	No other BP defined	153678	16	α-locus
3294	22 kb deletion	HBA1, HBA2, HBM	Exact	17214-SP0457-L20489	04624-L04004	19233-L25313	15859-L21960	Exact	NG_000006.1:g.20350_42078del	Causative	20350	No other BP defined	No other BP defined	42078	159487	No other BP defined	No other BP defined	181215	16	α-locus
3295	225 kb deletion	HS40, HBA1, HBA2, HBM, HBZ	Exact	19236-L25316	04799-L04797	18102-L20488	17212-L13393	Exact	NC_000016.10:g.56407_281805del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	56407	No other BP defined	No other BP defined	281805	16	α-locus
3296	--GB	HBA1, HBA2, HBM	Range	04622-L04001	17214-SP0457-L20489	04639-L04020	19233-L25313	Range	NG_000006.1:g.(13208_23659)_(38689_41963)del	Causative	13208	23659	38689	41963	152345	162796	177826	181100	16	α-locus
3307	N/A	HBB, HBD	Exact	11883-L12683	05828-L05332	21235-L29611	21555-L30397	Exact	NG_000007.3:g.[63191_70603dup;63291_70703del]	Causative	63191	No other BP defined	No other BP defined	70603	5227013	No other BP defined	No other BP defined	5234425	11	β-locus
3327	--GX	HS40, HBA1, HBA2, HBM, HBZ, NPRL3	Range	No probe	19236-L25316	17227-L20554	18102-L20488	Range	NC_000016.10:g.(41492_43628)_(247888_254167)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	41492	43628	247888	254167	16	α-locus
3340	Brazilian (εγδβ)0	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB, OR51B2, OR51V1	Range	18246-L30180	18251-L27003	18249-L24239	18247-SP0630-L27000	Range	NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	5106498	5151836	5324046	5390135	11	β-locus
3360	9.7 kb deletion	HBA1, HBA2	Exact	18090-L08415	18098-L22522	19233-L25313	15859-L21960	Exact	NG_000006.1:g.32709_42418del	Causative	32709	No other BP defined	No other BP defined	42418	171846	No other BP defined	No other BP defined	181555	16	α-locus
3390	βδβ hybrid	HBB, HBD	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Causative	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	11	β-locus
3393	3.5 kb deletion	HBB	Exact	11980-L12803	05836-L06321	05827-L06319	11982-L24242	Exact	NC_000011.10:g.5224302_5227791del3490bp	Causative	69825	No other BP defined	No other BP defined	73314	5224302	No other BP defined	No other BP defined	5227791	11	β-locus
3394	223 kb deletion	HBB, HBD	Exact	18244-L22953	18246-L30180	18108-SP0126-L15076	21235-L29611	Exact	NC_000011.10:g.5010012_5232933del	Causative	64683	No other BP defined	No other BP defined	Out of locus	5010012	No other BP defined	No other BP defined	5232933	11	β-locus
3407	(αα)JS	HS40, NPRL3	Exact	No probe	19236-L25316	04800-L04175	04926-L23886	Exact	NC_000016.10:g.46628_126325del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	46628	No other BP defined	No other BP defined	126325	16	α-locus
3408	--60.2	HBA1, HBA2, HBM, HBZ	Exact	04926-L23886	04622-L04001	15859-L21960	17227-L20554	Exact	NC_000016.10:g.147589_207883del	Causative	8452	No other BP defined	No other BP defined	Out of locus	147589	No other BP defined	No other BP defined	207883	16	α-locus
3432	Hkαα	α3.7 hybrid, HBA1, HBA2	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Neutral	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
3433	anti-Hkαα	HBA1, HBA2	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown	N/A	Neutral	No data available	No data available	No data available	No data available	No data available	No data available	No data available	No data available	16	α-locus
3440	-αMAL3.5	HBA2	Exact	18090-L08415	18098-L22522	08494-L08417	14855-L23604	Exact	NG_000006.1:g.32745_36301del	Causative	32745	No other BP defined	No other BP defined	36301	171882	No other BP defined	No other BP defined	175438	16	α-locus
3514	170 kb deletion	AXIN1, HBA1, HBA2	Exact	18092-L22516	18881-L06288	17212-L13393	17613-L23601	Exact	N/A	Causative	33739	No other BP defined	No other BP defined	Out of locus	172876	No other BP defined	No other BP defined	355226	16	α-locus
3570	1.78Mb εγδβ(0) del	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Range	No probe	18244-L22953	18247-SP0630-L27000	No probe	Range	NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del	Causative	Out of locus	Out of locus	Out of locus	Out of locus	4302665	4322227	6099443	6100105	11	β-locus
3577	59 Kb deletion	HBE1, HBG1, HBG2, LCRB	Exact	21555-L30397	05821-L06327	05804-L27001	18249-L24239	Exact	NC_000011.10:g.5236469_5295261del	Causative	2355	No other BP defined	No other BP defined	61147	5236469	No other BP defined	No other BP defined	5295261	11	β-locus
3578	2.2 Mb deletion	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Exact	No probe	18244-L22953	18247-SP0630-L27000	No probe	Exact	NC_000011.10:g.4052720_6253287del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	4052720	No other BP defined	No other BP defined	6253287	11	β-locus
3588	--OY	HS40, HBA1, HBA2, HBZ	Exact	No probe	19236-L25316	17212-L13393	17613-L23601	Exact	NC_000016.10:g.0_318541del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	BP starts from the telomere	No other BP defined	No other BP defined	318541	16	α-locus
3595	--CR	HBA1, HBA2, HBM, HBZ	Exact	04926-L23886	04622-L04001	19233-L25313	15859-L21960	Exact	NC_000016.10:g.144215_188843del	Causative	5078	No other BP defined	No other BP defined	Out of locus	144215	No other BP defined	No other BP defined	188843	16	α-locus
3596	Gγ duplication	HBG2	Exact	05817-L05321	18109-SP0127-L27005	21230-L30179*	05815-L05319	Exact	N/A	Neutral	42835	No other BP defined	No other BP defined	44428	5253188	No other BP defined	No other BP defined	5254781	11	β-locus
3603	-α6.9	HBA2	Exact	04637-L04018	18097-L22521	14855-L23604	18093-L22517	Exact	NG_000006.1:g.29785_36746del	Causative	29785	No other BP defined	No other BP defined	36746	168922	No other BP defined	No other BP defined	175883	16	α-locus
3606	177 Kb deletion	HBBP1, HBE1, HBG1, HBG2, LCRB, OR51B2, OR51B5, OR51B6, OR51M1	Exact	05821-L06327	21239-L29615	18247-SP0630-L27000	No probe	Exact	NC_000011.10:g.5241050_5418009del	Causative	Out of locus	No other BP defined	No other BP defined	56566	5241050	No other BP defined	No other BP defined	5418009	11	β-locus
3607	63 Kb deletion	HBA1, HBA2, HBZ	Range	04800-L04175	Unknown	15859-L21960	17227-L20554	Range	NC_000016.10:g.(143655_149367)_(181204_206338)del	Causative	4518	10230	42067	Out of locus	143655	149367	181204	206338	16	α-locus
3622	--71.8 (71.8 Kb deletion)	HBA1, HBA2, HBZ	Exact	04800-L04175	04926-L23886	15859-L21960	17227-L20554	Exact	NC_000016.10:g.138971_210817del	Causative	Out of locus	No other BP defined	No other BP defined	Out of locus	138971	No other BP defined	No other BP defined	210817	16	α-locus
3663	HS-40 deletion	HS40	Range	19236-L25316	04799-L04797	04800-L04175	04926-L23886	Range	NC_000016.10:g.(47217_113592)_(113687_143639)del	Causative	Out of locus	Out of locus	Out of locus	4502	47217	113592	113687	143639	16	α-locus
3711	(αα)YD	HS40	Exact	19236-L25316	04799-L04797	04926-L23886	04622-L04001	Exact	NC_000016.10:g.94096_147948del	Causative	Out of locus	No other BP defined	No other BP defined	8811	94096	No other BP defined	No other BP defined	147948	16	α-locus
3792	N/A	HBB, HBD	Exact	21234-L29610	05828-L05332	21235-L29611	21555-L30397	Exact	NG_000007.3:g.63154_70565del	Causative	63154	No other BP defined	No other BP defined	70565	5227051	No other BP defined	No other BP defined	5234462	11	β-locus
3821	--196	HS40, HBA1, HBA2, HBM, HBZ	Exact	No probe	19236-L25316	17227-L20554	18102-L20488	Range	NC_000016.10:g.35880_(232158_243266)del	Causative	Out of locus	No other BP defined	Out of locus	Out of locus	35880	No other BP defined	232158	243266	16	α-locus
3822	--227	HS40, HBA1, HBA2, HBM, HBZ	Exact	No probe	19236-L25316	17227-L20554	18102-L20488	Range	NC_000016.10:g.35880_(262740_268502)del	Causative	Out of locus	No other BP defined	Out of locus	Out of locus	35880	No other BP defined	262740	268502	16	α-locus
3823	60 kb deletion	HBB	Exact	18251-L27003	18253-L22962	11982-L24242	05824-L05328	Range	NC_000011.10:g.5167971_5228123delinsA	Causative	69493	No other BP defined	Out of locus	Out of locus	5167971	No other BP defined	No other BP defined	5228123	11	β-locus
3835	78.9 kb Gγ(Aγδβ)0 del	HBB, HBBP1, HBD, HBG1, OR52Z1-OR51V1	Exact	18251-L27003	18253-L22962	21237-L29613	21231-L29607**	Exact	NC_000011.10:g.5169895_5248821delins5216274_5216309	Causative	81343	No other BP defined	No other BP defined	Out of locus	5169895	No other BP defined	No other BP defined	5248821	11	β-locus
3849	~72 kb εγδβ(0) del	HBB, HBBP1, HBD, HBE1, HBG1, HBG2, LCRB	Range	18253-L22962	11980-L12803	05804-L27001	18249-L24239	Range	NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del	Causative	2540	9260	Out of locus	Out of locus	5200032	5215881	5288356	5295076	11	β-locus
3867	>6.5 Kb deletion	HBB, HBD	Range	13619-L15073	05833-L05335	21555-L30397	05821-L06327	Range	NG_000007.3:g.(63032_64585)_(71150_72080)del	Causative	63032	64585	71150	72080	5225536	5226466	5233031	5234584	11	β-locus
3868	>35.3 Kb deletion	HBBP1, HBD, HBE1, HBG1, HBG2	Range	21235-L29611	21555-L30397	12189-L30182	06395-L05315	Range	NG_000007.3:g.(21655_27675)_(63032_64586)del	Causative	21655	27675	63032	64586	5233030	5234582	5269941	5275961	11	β-locus
3869	>29.5 Kb duplication	HBB, HBBP1, HBD, HBG1, HBG2	Range	13619-L15073	05833-L05335	05813-L05317	12189-L30182	Range	NG_000007.3:g.(27675_41485)_(71150_72080)dup	Causative	27675	41485	71150	72080	5225536	5226466	5256131	5269941	11	β-locus
3886	(αα)107kb deletion	HS40, NPRL3	Exact	No probe	19236-L25316	04622-L04001	17214-SP0457-L20489	Exact	NC_000016.10:g.44025_151478del	Causative	Out of locus	No other BP defined	No other BP defined	12341	44025	No other BP defined	No other BP defined	151478	16	α-locus
3889	(αα)Aurora Borealis	HS40, HBM, HBZ, NPRL3	Range	19236-L25316	04799-L04797	04637-L04018	18097-L22521	Range	NC_000016.10:g.(48303_50379)_ (165612_167685)del	Causative	Out of locus	Out of locus	26475	28548	48303	50379	165612	167685	16	α-locus
3935	12.4 kb Mediterranean deletion	LCRB	Exact	06395-L05315	21238-L30181	05806-L22542	05804-L27001	Exact	NG_000007.3:g.2798_15161delinsAGAGCCCT	Causative	2798	No other BP defined	No other BP defined	15161	5282455	No other BP defined	No other BP defined	5294818	11	β-locus

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IthaCNVs Curators: Anna Minaidou, Coralea Stephanou, Petros Kountouris