A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13294159



Internal ID6583746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114504466..114515447hg38UCSC Ensembl
Innerchr8:114504510..114515403hg38UCSC Ensembl
Outerchr8:114504422..114515491hg38UCSC Ensembl
chr8:115516695..115527676hg19UCSC Ensembl
Innerchr8:115516739..115527632hg19UCSC Ensembl
Outerchr8:115516651..115527720hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3810982
hg1910982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618498
Supporting Variants
SamplesNA20765
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13294159
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer