A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663947



Internal ID9930052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35561800..35562104hg38UCSC Ensembl
chr17:33888819..33889123hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5554933, essv5400406, essv6379732, essv5607729, essv6032660, essv5702683, essv5455821, essv5884753, essv6222724, essv6302743, essv5532915, essv6130403, essv6524496, essv6362277, essv5934672, essv6291954, essv6132377, essv5767531, essv6487538, essv6581991, essv5518153, essv6282994, essv6377924, essv5520929, essv5926450, essv6037592, essv6186475, essv6328896, essv5450891, essv6151110, essv5441416, essv6487990, essv5569391, essv6252122, essv5993732, essv6208980, essv5681147, essv5865046, essv5400067, essv6518441, essv5878104, essv5526607, essv6463789, essv6237136, essv6241382, essv5994326, essv5516558, essv5446738, essv6232484, essv6090390, essv5983334, essv5714264, essv6356761, essv6267595, essv6048492, essv5561501, essv5759939, essv5705949, essv6138622, essv5496427, essv6375359, essv5591031, essv6314991
SamplesHG00608, HG01079, HG01188, HG01374, HG00699, NA19355, NA19819, NA18596, NA19377, HG00654, NA18510, NA18602, HG00693, HG01350, NA18940, HG01070, NA19319, NA19762, HG00702, HG01365, NA19130, HG00590, HG00277, HG01069, NA19383, NA19371, NA18560, HG00422, NA18520, NA18557, HG00323, HG00464, NA19007, HG00543, HG00154, HG00629, HG00443, NA18934, NA19077, HG01095, NA19663, HG01498, NA18572, HG00692, HG01047, HG00690, HG00404, NA18912, NA18532, NA18546, NA18543, NA20276, NA19773, HG01357, HG00473, HG00607, NA19360, HG00662, HG00656, NA19116, NA18623, HG00581, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663947
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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