A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673996



Internal ID9940101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16405902..16410408hg38UCSC Ensembl
Outerchr17:16405531..16410778hg38UCSC Ensembl
Innerchr17:16309216..16313722hg19UCSC Ensembl
Outerchr17:16308845..16314092hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5889807, essv5926950, essv5591551, essv5623036, essv5670790, essv6145682, essv5584197, essv5560601, essv6597874, essv5912098, essv5706186, essv5652133, essv5741396, essv6472060, essv5944583, essv6326095, essv5811518, essv5956706, essv5600782, essv5757694, essv6593743, essv5597608, essv5421303, essv5994069, essv6174297, essv5868820, essv5895673, essv5445593, essv6286723, essv5717047, essv6075277, essv5935799, essv6095668, essv5971050, essv6171170, essv5898813, essv6464514, essv5785000, essv5677875, essv5466522, essv6436105, essv5559158, essv5418764, essv5968667, essv6376475, essv5805533, essv5399092, essv5896446, essv5620330, essv6355520, essv5537415, essv6221162, essv6188400, essv6081949, essv6379088, essv6217059, essv6273531, essv6375804, essv6018118, essv6002960, essv5461958, essv5533148, essv5908808, essv6535780, essv5614658, essv5600007, essv5708014, essv6425455, essv6100876, essv5506314, essv6070317, essv5635862, essv5621638, essv5755567, essv6303594, essv6023831, essv6073033, essv5713110
SamplesHG00626, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00656, HG00698, HG00628, HG00437, HG00581, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673996
Frequency
Sample Size1151
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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