A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13271000



Internal ID3272816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102840730..102841508hg38UCSC Ensembl
Innerchr8:102840751..102841488hg38UCSC Ensembl
Outerchr8:102840710..102841529hg38UCSC Ensembl
chr8:103852958..103853736hg19UCSC Ensembl
Innerchr8:103852979..103853716hg19UCSC Ensembl
Outerchr8:103852938..103853757hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618239
Supporting Variants
SamplesHG04171
Known GenesAZIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13271000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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