A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2762632

Internal ID10029982
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25256138..25390874hg38UCSC Ensembl
Innerchr1:25582629..25717365hg19UCSC Ensembl
Innerchr1:25455216..25589952hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021299, essv7016411, essv7011188, essv7014300, essv7009744, essv7017411, essv7015189, essv7013855, essv7009855, essv7008855, essv7012410, essv7015744, essv7011410, essv7021521, essv7011966, essv7015300, essv7021188, essv7011521, essv7019188, essv7019521, essv7014522, essv7016744, essv7016077, essv7009077, essv7013411, essv7014078, essv7010077, essv7021077, essv7011855, essv7019633, essv7017744, essv7010521, essv7020744, essv7016966, essv7013078, essv7017966, essv7013744, essv7019299, essv7016855, essv7017077, essv7019077, essv7014633, essv7011077, essv7018522, essv7016300, essv7020632, essv7021632, essv7016522, essv7009410, essv7011743, essv7021855, essv7018966, essv7012299, essv7014855, essv7020521, essv7013189, essv7016188, essv7020855, essv7009521, essv7020188, essv7020966, essv7011632, essv7018855, essv7014411, essv7010855, essv7019744, essv7010410, essv7010632, essv7012743, essv7012188, essv7014189, essv7020077, essv7020299, essv7020410, essv7012521, essv7013300, essv7012077, essv7018188, essv7018299, essv7018077, essv7009966, essv7022299, essv7008966, essv7015522, essv7021743, essv7012854, essv7010188, essv7010744, essv7017299, essv7015077, essv7014966, essv7015855, essv7010966, essv7013966, essv7012632, essv7021410, essv7015633, essv7017855, essv7009299, essv7009633, essv7021966, essv7019410, essv7017633, essv7015411, essv7011299, essv7022188, essv7015966, essv7018744, essv7014744, essv7016633, essv7018410, essv7018633, essv7009188, essv7013522, essv7017522, essv7019855, essv7022077, essv7013633, essv7017188, essv7019966, essv7012967, essv7010299
SamplesSW_1313, SW_0086, SW_0619, SW_1122, SW_1570, SW_1171, SW_1337, SW_1283, SW_0803, SW_1215, SW_1170, SW_0030, SW_0144, SW_0241, SW_1199, SW_1095, SW_0165, SW_1299, SW_1318, SW_1330, SW_1364, SW_1470, SW_1166, SW_1258, SW_0860, SW_0230, SW_0268, SW_1506, SW_0593, SW_1267, SW_1034, SW_0554, SW_0635, SW_0353, SW_0814, SW_0255, SW_0113, SW_1295, SW_1085, SW_0216, SW_0828, SW_1333, SW_1044, SW_1152, SW_0091, SW_0047, SW_0016, SW_0203, SW_1441, SW_0007, SW_0873, SW_1249, SW_1182, SW_0890, SW_1448, SW_1235, SW_1276, SW_1392, SW_1106, SW_1431, SW_0286, SW_1254, SW_1535, SW_1503, SW_0340, SW_1308, SW_0805, SW_0184, SW_1393, SW_0143, SW_1039, SW_1093, SW_1211, SW_1111, SW_1049, SW_1389, SW_0187, SW_0146, SW_1053, SW_1092, SW_1225, SW_0847, SW_0049, SW_1077, SW_1188, SW_0227, SW_0017, SW_1080, SW_0871, SW_0351, SW_1396, SW_0716, SW_0717, SW_0762, SW_0832, SW_1261, SW_1374, SW_1407
Known GenesRHCE, RHD, TMEM50A
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
Pubmed ID21179565
Accession Number(s)esv2762632
Sample Size1109
Observed Gain5
Observed Loss93
Observed Complex0

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