A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656495



Internal ID9922600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170376328..170376784hg38UCSC Ensembl
Outerchr6:170375957..170377154hg38UCSC Ensembl
Innerchr6:170685416..170685872hg19UCSC Ensembl
Outerchr6:170685045..170686242hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5576378, essv6102290, essv5806020, essv6400068, essv5490443, essv6298820, essv6065102, essv6371691, essv5765783, essv6389647, essv6245297, essv5498813, essv5625801, essv6577886, essv5819421, essv5701792, essv5528517, essv6215960, essv6133584, essv5565141, essv6010747, essv5896873, essv5902564, essv5424779, essv6232139, essv5526314, essv5866573, essv5636156, essv5707713
SamplesHG00593, HG00626, HG00403, HG00542, HG00634, HG00610, HG00512, HG00683, HG00530, HG00629, HG00596, HG00428, HG00653, HG00657, HG00584, HG00619, HG00692, HG00635, HG00651, HG00690, HG00404, HG00684, HG00620, HG00707, HG00513, HG00478, HG00698, HG00628, HG00581
Known GenesFAM120B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656495
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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