A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11129866



Internal ID5263028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125596596..125597383hg38UCSC Ensembl
Innerchr3:125596646..125597333hg38UCSC Ensembl
Outerchr3:125596544..125597435hg38UCSC Ensembl
chr3:125315440..125316227hg19UCSC Ensembl
Innerchr3:125315490..125316177hg19UCSC Ensembl
Outerchr3:125315388..125316279hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597660
Supporting Variants
SamplesNA18638
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11129866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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