A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628117



Internal ID7014942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132053654..132060279hg38UCSC Ensembl
chr11:131923548..131930173hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg386626
hg196626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236e214
Supporting Variantsessv14317571, essv14317557, essv14317558, essv14317554, essv14317560, essv14317555, essv14317570, essv14317549, essv14317573, essv14317559, essv14317551, essv14317565, essv14317569, essv14317574, essv14317552, essv14317576, essv14317547, essv14317566, essv14317561, essv14317567, essv14317568, essv14317548, essv14317546, essv14317553, essv14317562, essv14317572, essv14317556, essv14317550, essv14317563, essv14317575, essv14317564
SamplesHG01413, NA12717, HG04060, NA20814, HG04022, HG02407, HG00458, HG01528, HG04131, HG03917, HG03868, HG03826, HG00338, HG03585, HG04146, HG03644, HG01864, HG00583, HG01808, NA21116, NA18537, HG03829, HG04063, HG04025, HG03778, NA18952, HG03849, HG01089, HG00280, HG03698, HG01191
Known GenesNTM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628117
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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