A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616529



Internal ID6656725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18781590..18784189hg38UCSC Ensembl
Innerchr8:18781593..18784186hg38UCSC Ensembl
Outerchr8:18781587..18784192hg38UCSC Ensembl
chr8:18639100..18641699hg19UCSC Ensembl
Innerchr8:18639103..18641696hg19UCSC Ensembl
Outerchr8:18639097..18641702hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13130958, essv13130957
SamplesHG02979, HG03124
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616529
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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