A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586500



Internal ID7057882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13184566..13263232hg38UCSC Ensembl
Innerchr1:13320001..13368854hg19UCSC Ensembl
Innerchr1:13192500..13241441hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878667
hg1948854
hg1848942
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000242
Supporting Variants
SamplesHuRef
Known GenesPRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586500
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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