A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675614



Internal ID9941719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99014216..99015207hg38UCSC Ensembl
Outerchr8:99014059..99015360hg38UCSC Ensembl
Innerchr8:100026444..100027435hg19UCSC Ensembl
Outerchr8:100026287..100027588hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5949334, essv5492943, essv6248195, essv5646089, essv5832175
SamplesNA19723, HG01170, NA19719, HG00323, HG00254
Known GenesVPS13B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675614
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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