A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671501



Internal ID9937606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99171679..99176085hg38UCSC Ensembl
Outerchr14:99171308..99176455hg38UCSC Ensembl
Innerchr14:99638016..99642422hg19UCSC Ensembl
Outerchr14:99637645..99642792hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5650327, essv6324276, essv6543511, essv6145894, essv6499952, essv6032881, essv5750454, essv6448097, essv6143315, essv5818704, essv5543294, essv5754967, essv5784837, essv5996372, essv5611656, essv6513575, essv5748731, essv6376948, essv6091425, essv5561566, essv6069691, essv6286292, essv6370146, essv5991492, essv6480105, essv6088245, essv5847717, essv5489553, essv5430941, essv5460454, essv5449512, essv5654536, essv5690475, essv6000690, essv6528467, essv5638921, essv5988081, essv6058833, essv6170802, essv6050164, essv6516934, essv5523131, essv5697171, essv5740438, essv5696909, essv6320657, essv6011873, essv5783384, essv6132253, essv6514616, essv6515242, essv6153374, essv5404635, essv5869071, essv6460303, essv6235313, essv6127735, essv6411472, essv6338078, essv5896642, essv6151809, essv5742893, essv6262530, essv6261696, essv5791027, essv6563658, essv6022726, essv5987413, essv5528729, essv6060450, essv6005163, essv6553855, essv6080254, essv6238278, essv6427452, essv5779176
SamplesHG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00629, HG00443, HG00596, HG00428, HG00653, HG00701, HG00657, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00531, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00580, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00628, HG00437, HG00581
Known GenesBCL11B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671501
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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