A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13099237



Internal ID5121278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9863400..9869174hg38UCSC Ensembl
Innerchr8:9863900..9868674hg38UCSC Ensembl
Outerchr8:9862400..9870174hg38UCSC Ensembl
chr8:9720910..9726684hg19UCSC Ensembl
Innerchr8:9721410..9726184hg19UCSC Ensembl
Outerchr8:9719910..9727684hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385775
hg195775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616204
Supporting Variants
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13099237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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