A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000115



Internal ID7065250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762477..55788532hg38UCSC Ensembl
Innerchr16:55796389..55822444hg19UCSC Ensembl
Innerchr16:54353890..54379945hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3826056
hg1926056
hg1826056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586023
SamplesHuRef
Known GenesCES1P1
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000115
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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