A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13097366



Internal ID5698040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9640342..9643453hg38UCSC Ensembl
Innerchr8:9640342..9643453hg38UCSC Ensembl
Outerchr8:9639939..9643881hg38UCSC Ensembl
chr8:9497852..9500963hg19UCSC Ensembl
Innerchr8:9497852..9500963hg19UCSC Ensembl
Outerchr8:9497449..9501391hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383112
hg193112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616192
Supporting Variants
SamplesNA19088
Known GenesTNKS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13097366
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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