A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616613



Internal ID7003499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22575592..22577000hg38UCSC Ensembl
Innerchr8:22575593..22576999hg38UCSC Ensembl
Outerchr8:22575591..22577001hg38UCSC Ensembl
chr8:22433105..22434513hg19UCSC Ensembl
Innerchr8:22433106..22434512hg19UCSC Ensembl
Outerchr8:22433104..22434514hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13133494, essv13133492, essv13133493
SamplesHG03460, HG03064, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616613
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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