A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130114



Internal ID3131930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18717102..18788681hg38UCSC Ensembl
Innerchr8:18717102..18788681hg38UCSC Ensembl
Outerchr8:18716602..18789181hg38UCSC Ensembl
chr8:18574612..18646191hg19UCSC Ensembl
Innerchr8:18574612..18646191hg19UCSC Ensembl
Outerchr8:18574112..18646691hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3871580
hg1971580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616527
Supporting Variants
SamplesNA20757
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130114
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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