A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630022



Internal ID7016842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76101031..76105692hg38UCSC Ensembl
chr12:76494811..76499472hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv286e214
Supporting Variantsessv14539495, essv14539488, essv14539500, essv14539474, essv14539493, essv14539491, essv14539479, essv14539469, essv14539494, essv14539472, essv14539481, essv14539497, essv14539492, essv14539498, essv14539480, essv14539471, essv14539485, essv14539478, essv14539489, essv14539487, essv14539484, essv14539499, essv14539483, essv14539477, essv14539482, essv14539475, essv14539486, essv14539470, essv14539490, essv14539473, essv14539476, essv14539496
SamplesHG02574, HG02702, HG03175, HG03247, HG03057, NA19819, HG03455, HG01051, HG03485, NA19207, NA19456, HG02882, NA19451, HG02439, HG03054, HG03061, NA19462, HG02896, NA19017, NA19375, NA19321, HG02837, NA20281, HG03419, NA19376, NA19726, HG03538, NA19900, NA19030, HG02861, HG02465, HG02629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630022
Frequency
Sample Size2504
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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