A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764098



Internal ID10031448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7102311..8743201hg38UCSC Ensembl
Innerchr8:6959833..8600711hg19UCSC Ensembl
Innerchr8:6947243..8638121hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381640891
hg191640879
hg181690879
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
MethodMerging
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.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2764098
Frequency
Sample Size1109
Observed Gain77
Observed Loss44
Observed Complex0
Frequencyn/a


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