A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677833



Internal ID9943938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99082345..99093199hg38UCSC Ensembl
Outerchr8:99082308..99093249hg38UCSC Ensembl
Innerchr8:100094573..100105427hg19UCSC Ensembl
Outerchr8:100094536..100105477hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3810942
hg1910942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5427721
SamplesHG01083
Known GenesVPS13B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677833
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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