A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671823



Internal ID9591242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60502355..60504111hg38UCSC Ensembl
Outerchr17:60501984..60504481hg38UCSC Ensembl
Innerchr17:58579716..58581472hg19UCSC Ensembl
Outerchr17:58579345..58581842hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382498
hg192498
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671823
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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