A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2764098

Internal ID10031448
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7102311..8743201hg38UCSC Ensembl
Innerchr8:6959833..8600711hg19UCSC Ensembl
Innerchr8:6947243..8638121hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992363, essv6992328, essv6992325, essv6992353, essv6992259, essv6992361, essv6992304, essv6992307, essv6992365, essv6992338, essv6992349, essv6992362, essv6992383, essv6992326, essv6992352, essv6992309, essv6992319, essv6992261, essv6992249, essv6992284, essv6992371, essv6992377, essv6992252, essv6992306, essv6992315, essv6992266, essv6992333, essv6992248, essv6992283, essv6992303, essv6992380, essv6992257, essv6992305, essv6992357, essv6992359, essv6992375, essv6992287, essv6992316, essv6992302, essv6992322, essv6992270, essv6992364, essv6992244, essv6992384, essv6992275, essv6992296, essv6992335, essv6992246, essv6992250, essv6992258, essv6992282, essv6992299, essv6992253, essv6992297, essv6992337, essv6992372, essv6992321, essv6992317, essv6992324, essv6992255, essv6992308, essv6992382, essv6992311, essv6992247, essv6992268, essv6992288, essv6992290, essv6992243, essv6992260, essv6992271, essv6992370, essv6992295, essv6992272, essv6992292, essv6992273, essv6992369, essv6992286, essv6992262, essv6992294, essv6992350, essv6992279, essv6992332, essv6992341, essv6992344, essv6992330, essv6992347, essv6992381, essv6992346, essv6992373, essv6992331, essv6992336, essv6992251, essv6992263, essv6992340, essv6992376, essv6992293, essv6992285, essv6992291, essv6992348, essv6992310, essv6992274, essv6992355, essv6992379, essv6992241, essv6992368, essv6992254, essv6992339, essv6992351, essv6992360, essv6992280, essv6992276, essv6992242, essv6992281, essv6992318, essv6992320, essv6992313, essv6992327, essv6992264, essv6992374, essv6992366, essv6992277, essv6992342, essv6992269, essv6992265, essv6992314, essv6992298, essv6992358, essv6992354, essv6992343, essv6992329
SamplesSW_1167, SW_1162, SW_1313, SW_0816, SW_0639, SW_1229, SW_0160, SW_0311, SW_1398, SW_0800, SW_1064, SW_0189, SW_1439, SW_0296, SW_1148, SW_1196, SW_0144, SW_0241, SW_0590, SW_0148, SW_0173, SW_1141, SW_1317, SW_1330, SW_1364, SW_1166, SW_0268, SW_1234, SW_1400, SW_1040, SW_1057, SW_1422, SW_1163, SW_1021, SW_1547, SW_0063, SW_0535, SW_0002, SW_1081, SW_0647, SW_0255, SW_1110, SW_1288, SW_0828, SW_0285, SW_1224, SW_1051, SW_0885, SW_1004, SW_0256, SW_0538, SW_1315, SW_0085, SW_1084, SW_1287, SW_1182, SW_0199, SW_1119, SW_1384, SW_1126, SW_0822, SW_0634, SW_1306, SW_0072, SW_1278, SW_0008, SW_1134, SW_1308, SW_1193, SW_0243, SW_1047, SW_0102, SW_1090, SW_1142, SW_1523, SW_1393, SW_0253, SW_0665, SW_0186, SW_0575, SW_1059, SW_1093, SW_1079, SW_1116, SW_0076, SW_0775, SW_0058, SW_1033, SW_1269, SW_0146, SW_0170, SW_1305, SW_0660, SW_1279, SW_0049, SW_0103, SW_0638, SW_1188, SW_0227, SW_0215, SW_1080, SW_1252, SW_0577, SW_0716, SW_1242, SW_0257, SW_0200, SW_0717, SW_1137, SW_1232, SW_0271, SW_0576, SW_1043, SW_1436, SW_1456, SW_1480, SW_0101
Known GenesCLDN23, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SGK223, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
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)esv2764098
Sample Size1109
Observed Gain77
Observed Loss44
Observed Complex0

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