A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338799



Internal ID3769526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134245449..134300060hg38UCSC Ensembl
Innerchr8:134245461..134300049hg38UCSC Ensembl
Outerchr8:134245438..134300072hg38UCSC Ensembl
chr8:135257692..135312303hg19UCSC Ensembl
Innerchr8:135257704..135312292hg19UCSC Ensembl
Outerchr8:135257681..135312315hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3854612
hg1954612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618906
Supporting Variants
SamplesHG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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