A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617778



Internal ID7004663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80350697..80354153hg38UCSC Ensembl
Innerchr8:80350697..80354153hg38UCSC Ensembl
Outerchr8:80350553..80354305hg38UCSC Ensembl
chr8:81262932..81266388hg19UCSC Ensembl
Innerchr8:81262932..81266388hg19UCSC Ensembl
Outerchr8:81262788..81266540hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383457
hg193457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13238999
SamplesHG01746
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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