A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662362



Internal ID9581781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30462793..30462958hg38UCSC Ensembl
chr19:30953700..30953865hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5442272, essv6291354, essv6071599, essv5622789, essv6195755, essv6349813, essv6188418, essv6566006, essv6147990, essv6532716, essv5612170, essv6411668, essv6290016, essv6550643, essv6329143, essv6418806, essv5961513, essv6503932, essv6190149, essv6240176, essv6551840, essv5544816, essv6107475, essv5741039, essv6452480, essv5554785, essv5874488, essv6314328, essv5853540, essv6090628, essv6459367, essv5623581, essv5602489, essv5888400, essv6366744, essv6294715, essv6073051, essv5754968, essv6110297, essv6094675, essv6322651, essv5531414, essv5568189, essv5415922, essv6376907, essv6006076, essv5852779, essv6346923, essv6360478, essv6261093, essv5804286, essv5941732, essv5652866, essv5524171, essv5446587, essv5881222, essv6291016, essv6533222, essv5658839, essv6204169, essv5737693, essv5471975, essv6241155, essv5931169, essv5868120, essv5715143, essv6394117, essv6080222, essv6397304
SamplesHG00252, HG00318, HG00607, HG00619, HG00418, HG01052, NA20752, HG00705, HG01173, NA18612, HG00464, HG00449, NA18545, HG00657, HG00614, HG00577, NA18953, HG01488, HG00428, HG01174, HG00326, HG00139, NA18546, HG00698, HG00404, HG01101, HG00253, NA18557, HG00158, HG01384, HG00472, HG01375, HG00337, NA18635, NA18536, NA18622, HG00610, HG00628, HG00133, HG00436, NA18572, HG00559, HG00501, HG00672, HG00232, HG00524, NA18562, HG01383, HG00236, HG00427, HG00590, HG00443, NA18544, NA18577, NA18614, NA19064, NA19371, HG00708, NA18610, NA20758, HG00693, HG01125, HG00275, HG00690, HG00473, HG01102, HG00136, NA07000, HG01354
Known GenesZNF536
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662362
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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