A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675118



Internal ID9941223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2808589..2809095hg38UCSC Ensembl
Outerchr4:2808218..2809465hg38UCSC Ensembl
Innerchr4:2810316..2810822hg19UCSC Ensembl
Outerchr4:2809945..2811192hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv915e199
Supporting Variantsessv5930704, essv6207679, essv5531107, essv5614797, essv5858831, essv6312689, essv5572330, essv5613258, essv5866282, essv6105364, essv5827821, essv5780111, essv6310299, essv6544692, essv5955905, essv5957288, essv6458963, essv5450066, essv5398358, essv5481116, essv5848240, essv6044850, essv6426055, essv5989262, essv6004194, essv5574652, essv6101157, essv6432879, essv6013064, essv5958169, essv6265364, essv5737376, essv6598091, essv5886504, essv5753401, essv6437702, essv5474164, essv6386134, essv6429847, essv6394767, essv5696832, essv6517482, essv5941545, essv5940590, essv5940083, essv5653555, essv6447781, essv5728427, essv5552687, essv6375196, essv5698813, essv6316180, essv5958143, essv6307254, essv5578886, essv5929655, essv6029155, essv6413275, essv5739239, essv6119368, essv6192228, essv5790400, essv6161242, essv6039530, essv6405336, essv6295512, essv5655699, essv5708627, essv6007004
SamplesHG00189, HG00361, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00179, HG00337, HG00327, HG00271, HG00272, HG00346, HG00369, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00183, HG00176, HG00282, HG00328, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00269, HG00329, HG00342, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00345
Known GenesSH3BP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675118
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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