A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670794



Internal ID9936899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:116439884..116442128hg38UCSC Ensembl
Outerchr8:116439727..116442281hg38UCSC Ensembl
Innerchr8:117452122..117454366hg19UCSC Ensembl
Outerchr8:117451965..117454519hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg382555
hg192555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5809521
SamplesNA19904
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670794
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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