A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543915



Internal ID18744991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99014148..99015136hg38UCSC Ensembl
Outerchr8:99014108..99015233hg38UCSC Ensembl
Innerchr8:100026376..100027364hg19UCSC Ensembl
Outerchr8:100026336..100027461hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742662
Samples
Known GenesVPS13B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543915
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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