A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596088



Internal ID6983405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47532199..47534982hg38UCSC Ensembl
Innerchr3:47532349..47534832hg38UCSC Ensembl
Outerchr3:47532049..47535132hg38UCSC Ensembl
chr3:47573689..47576472hg19UCSC Ensembl
Innerchr3:47573839..47576322hg19UCSC Ensembl
Outerchr3:47573539..47576622hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382784
hg192784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11002637
SamplesHG01708
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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