A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10970898



Internal ID3039617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31737647..31744987hg38UCSC Ensembl
Innerchr3:31737647..31744987hg38UCSC Ensembl
Outerchr3:31737502..31745142hg38UCSC Ensembl
chr3:31779139..31786479hg19UCSC Ensembl
Innerchr3:31779139..31786479hg19UCSC Ensembl
Outerchr3:31778994..31786634hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg387341
hg197341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595758
Supporting Variants
SamplesHG02678
Known GenesOSBPL10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10970898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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