A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000242



Internal ID7065376
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586500
SamplesHuRef
Known GenesPRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000242
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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