A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13097500



Internal ID2286785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9669617..9727278hg38UCSC Ensembl
Innerchr8:9669617..9727278hg38UCSC Ensembl
Outerchr8:9669117..9727778hg38UCSC Ensembl
chr8:9527127..9584788hg19UCSC Ensembl
Innerchr8:9527127..9584788hg19UCSC Ensembl
Outerchr8:9526627..9585288hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3857662
hg1957662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616193
Supporting Variants
SamplesHG02047
Known GenesTNKS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13097500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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