A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891447



Internal ID19185843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99054062..99227912hg38UCSC Ensembl
Outerchr8:99054062..99227912hg38UCSC Ensembl
Innerchr8:100066290..100240140hg19UCSC Ensembl
Outerchr8:100066290..100240140hg19UCSC Ensembl
Innerchr8:100135466..100309316hg18UCSC Ensembl
Outerchr8:100135466..100309316hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38173851
hg19173851
hg18173851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783972
Samples
Known GenesVPS13B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891447
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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