A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132833



Internal ID4263959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21626808..21635345hg38UCSC Ensembl
Innerchr8:21626844..21635309hg38UCSC Ensembl
Outerchr8:21626772..21635381hg38UCSC Ensembl
chr8:21484319..21492856hg19UCSC Ensembl
Innerchr8:21484355..21492820hg19UCSC Ensembl
Outerchr8:21484283..21492892hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg388538
hg198538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616596
Supporting Variants
SamplesHG03832
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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