A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267447



Internal ID1432857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99082426..99093422hg38UCSC Ensembl
Innerchr8:99082449..99093400hg38UCSC Ensembl
Outerchr8:99082404..99093445hg38UCSC Ensembl
chr8:100094654..100105650hg19UCSC Ensembl
Innerchr8:100094677..100105628hg19UCSC Ensembl
Outerchr8:100094632..100105673hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3810997
hg1910997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618167
Supporting Variants
SamplesHG01312
Known GenesVPS13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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