A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667181



Internal ID9933286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74333159..74343120hg38UCSC Ensembl
Outerchr8:74333122..74343170hg38UCSC Ensembl
Innerchr8:75245394..75255355hg19UCSC Ensembl
Outerchr8:75245357..75255405hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3810049
hg1910049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6129914
SamplesNA19225
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667181
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