A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2671823

Internal ID9591242
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60502355..60504111hg38UCSC Ensembl
Outerchr17:60501984..60504481hg38UCSC Ensembl
Innerchr17:58579716..58581472hg19UCSC Ensembl
Outerchr17:58579345..58581842hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5991941, essv5477797, essv5840332, essv6435805, essv6056822, essv5694477, essv6341921, essv5416738, essv6380409, essv6175769, essv6571092, essv5520413, essv5900474, essv5661345, essv6244614, essv5567230, essv6258917, essv5486466, essv5730792, essv5447534, essv6227402, essv5492664, essv6178732, essv5555732, essv5415821, essv5688620, essv5573714, essv6259526, essv6231071, essv5687905, essv6351957, essv5905655, essv6261608, essv6293007, essv6257341, essv5789877, essv6511603, essv5694769, essv6231405, essv6281785, essv5467594, essv5469433, essv5539981, essv6147247, essv6025919, essv6129297, essv6073437, essv6367685, essv5631769, essv5978486, essv6404146
SamplesNA19207, NA18870, NA19625, NA18861, NA19712, NA19904, NA19819, NA19209, NA18501, NA19093, NA20294, NA19920, NA19144, NA19257, NA18505, NA18868, NA20340, NA19914, NA19917, NA19197, NA19908, NA19835, NA18916, NA19700, NA20341, NA19213, NA19247, NA19153, NA18498, NA18923, NA18486, NA20344, NA18502, NA19119, NA19713, NA18504, NA19704, NA19131, NA19235, NA19921, NA20276, NA19116, NA20289, NA19818, NA20317, NA19225, NA18917, NA19160, NA18924, NA19130, NA19204
Known GenesAPPBP2
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2671823
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0

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