A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586473



Internal ID7057855
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009152
Supporting Variants
SamplesHuRef
Known GenesPPP1R12B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586473
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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