A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238933



Internal ID646666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80260375..80272384hg38UCSC Ensembl
Innerchr8:80260875..80271884hg38UCSC Ensembl
Outerchr8:80259375..80273384hg38UCSC Ensembl
chr8:81172610..81184619hg19UCSC Ensembl
Innerchr8:81173110..81184119hg19UCSC Ensembl
Outerchr8:81171610..81185619hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3812010
hg1912010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617773
Supporting Variants
SamplesHG00284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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