A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002783



Internal ID6714917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6842071..6843522hg38UCSC Ensembl
Innerchr16:6892072..6893523hg19UCSC Ensembl
Innerchr16:6832073..6833524hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381452
hg191452
hg181452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587036
SamplesHuRef
Known GenesRBFOX1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002783
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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