A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616548



Internal ID7003434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19729741..19733556hg38UCSC Ensembl
Innerchr8:19729786..19733512hg38UCSC Ensembl
Outerchr8:19729697..19733601hg38UCSC Ensembl
chr8:19587252..19591067hg19UCSC Ensembl
Innerchr8:19587297..19591023hg19UCSC Ensembl
Outerchr8:19587208..19591112hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383816
hg193816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13131092, essv13131091, essv13131090
SamplesHG01102, NA07051, NA12749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616548
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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