A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009152



Internal ID7059198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202378446..202561105hg38UCSC Ensembl
Innerchr1:202347574..202530233hg19UCSC Ensembl
Innerchr1:200614197..200796856hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38182660
hg19182660
hg18182660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586473
SamplesHuRef
Known GenesPPP1R12B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009152
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