A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13294039



Internal ID6672120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114303519..114364312hg38UCSC Ensembl
Innerchr8:114303539..114364293hg38UCSC Ensembl
Outerchr8:114303500..114364332hg38UCSC Ensembl
chr8:115315748..115376541hg19UCSC Ensembl
Innerchr8:115315768..115376522hg19UCSC Ensembl
Outerchr8:115315729..115376561hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3860794
hg1960794
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618495
Supporting Variants
SamplesNA20810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13294039
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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