A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613138



Internal ID7000036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51386313..51416650hg38UCSC Ensembl
chr7:51454010..51484347hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3830338
hg1930338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12770060, essv12770057, essv12770062, essv12770068, essv12770059, essv12770071, essv12770056, essv12770061, essv12770067, essv12770058, essv12770065, essv12770072, essv12770070, essv12770063, essv12770064, essv12770066, essv12770069
SamplesNA19399, NA19332, NA19314, NA19023, NA19384, NA19404, NA19026, HG03511, NA19403, NA19461, NA19395, NA19321, NA19473, NA19435, NA19428, NA19475, NA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613138
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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