A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992622



Internal ID7078183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22448196..22518136hg38UCSC Ensembl
Innerchr14:22917188..22987114hg19UCSC Ensembl
Innerchr14:21987028..22056954hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3869941
hg1969927
hg1869927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586546
SamplesHuRef
Known Genes
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992622
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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