A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11117092



Internal ID6492835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119700988..119701701hg38UCSC Ensembl
Innerchr3:119701001..119701688hg38UCSC Ensembl
Outerchr3:119700975..119701714hg38UCSC Ensembl
chr3:119419835..119420548hg19UCSC Ensembl
Innerchr3:119419848..119420535hg19UCSC Ensembl
Outerchr3:119419822..119420561hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597566
Supporting Variants
SamplesNA20530
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11117092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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