A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13201983



Internal ID2650081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53142680..53161621hg38UCSC Ensembl
Innerchr8:53142680..53161621hg38UCSC Ensembl
Outerchr8:53142180..53162121hg38UCSC Ensembl
chr8:54055240..54074181hg19UCSC Ensembl
Innerchr8:54055240..54074181hg19UCSC Ensembl
Outerchr8:54054740..54074681hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3818942
hg1918942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617232
Supporting Variants
SamplesHG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13201983
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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