A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11196106



Internal ID1968060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158505753..158522742hg38UCSC Ensembl
Innerchr3:158505782..158522714hg38UCSC Ensembl
Outerchr3:158505725..158522771hg38UCSC Ensembl
chr3:158223542..158240531hg19UCSC Ensembl
Innerchr3:158223571..158240503hg19UCSC Ensembl
Outerchr3:158223514..158240560hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg3816990
hg1916990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598334
Supporting Variants
SamplesHG01816
Known GenesRSRC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11196106
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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