A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657834



Internal ID9923939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204412388..204416944hg38UCSC Ensembl
Outerchr1:204411967..204417664hg38UCSC Ensembl
Innerchr1:204381516..204386072hg19UCSC Ensembl
Outerchr1:204381095..204386792hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385698
hg195698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5693104, essv5483089, essv5487644, essv5516100, essv6063621, essv5672632, essv6390106, essv5436044, essv5843858, essv6044702, essv6227234, essv5655985, essv5578636, essv6483213, essv5722604, essv6548045, essv6247185, essv6160565, essv5667743, essv6527417, essv6353704, essv6007803, essv5529701, essv5761177, essv5419767, essv6506155, essv5466483, essv5826112, essv5409037, essv5807219, essv6226888, essv5821296, essv5495927, essv6409361, essv6027633, essv6280819, essv5431574, essv6454743, essv5599996, essv6449021, essv5601578, essv6117204, essv6434449, essv5472505, essv5986133, essv6164422, essv5461030, essv6172127, essv5865066, essv6377878, essv5652798, essv5568232, essv6348931, essv6102670, essv5417727, essv6093822, essv5910613, essv5903542, essv6154176, essv5853984, essv6332921, essv5625267
SamplesNA19394, HG00650, NA19703, NA19819, NA19393, NA19377, NA19920, NA19446, NA19396, NA19381, NA19379, NA19382, NA19315, NA19448, HG00537, NA19917, NA19385, HG00422, NA19471, NA20342, NA19445, NA19908, NA19437, NA19707, NA19462, NA19347, HG00701, NA19327, NA19982, HG00708, HG00635, NA19452, HG00463, NA19318, NA19395, NA19401, NA19375, HG00476, NA19440, NA19321, NA19712, NA19473, NA19435, NA19444, NA19380, NA19334, NA19428, NA19324, NA19311, HG00614, HG00513, NA20348, HG00578, NA19438, NA19474, HG00698, NA19312, NA19463, NA19429, NA19346, HG00581, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657834
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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