A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616607



Internal ID6656803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22345427..22348022hg38UCSC Ensembl
Innerchr8:22345427..22348022hg38UCSC Ensembl
Outerchr8:22345103..22348388hg38UCSC Ensembl
chr8:22202940..22205535hg19UCSC Ensembl
Innerchr8:22202940..22205535hg19UCSC Ensembl
Outerchr8:22202616..22205901hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382596
hg192596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13133479, essv13133474, essv13133475, essv13133476, essv13133477, essv13133478
SamplesNA19072, HG00254, NA20760, NA11892, HG01269, NA12156
Known GenesPIWIL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616607
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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