A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999616



Internal ID6735540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31094554..31095182hg38UCSC Ensembl
Innerchr16:31105875..31106503hg19UCSC Ensembl
Innerchr16:31013376..31014004hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38629
hg19629
hg18629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587281
SamplesHuRef
Known GenesVKORC1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999616
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer