A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007380



Internal ID7072474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46125932..46126401hg38UCSC Ensembl
Innerchr21:47545846..47546315hg19UCSC Ensembl
Innerchr21:46370274..46370743hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38470
hg19470
hg18470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586794
SamplesHuRef
Known GenesCOL6A2
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007380
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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