A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990249



Internal ID7076492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14074543..14098955hg38UCSC Ensembl
Innerchr21:15446864..15471276hg19UCSC Ensembl
Innerchr21:14368735..14393147hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3824413
hg1924413
hg1824413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586501
SamplesHuRef
Known Genes
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990249
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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