A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010827



Internal ID6722918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550315..43553435hg38UCSC Ensembl
Innerchr21:44970196..44973316hg19UCSC Ensembl
Innerchr21:43794624..43797744hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383121
hg193121
hg183121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586360
SamplesHuRef
Known GenesHSF2BP
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010827
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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