A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596086



Internal ID6983403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47516707..47523672hg38UCSC Ensembl
chr3:47558197..47565162hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386966
hg196966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11002624, essv11002622, essv11002623, essv11002625
SamplesHG03559, NA12813, HG01612, NA19160
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596086
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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