A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618239



Internal ID6658434
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271000, essv13271001
SamplesNA18616, HG04171
Known GenesAZIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618239
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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