A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993312



Internal ID7078645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34700678..34701165hg38UCSC Ensembl
Innerchr21:36072977..36073464hg19UCSC Ensembl
Innerchr21:34994847..34995334hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38488
hg19488
hg18488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586858
SamplesHuRef
Known GenesCLIC6
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993312
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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