A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001235



Internal ID6713374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13311456..13369718hg38UCSC Ensembl
Innerchr1:13417051..13475340hg19UCSC Ensembl
Innerchr1:13289638..13347927hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3858263
hg1958290
hg1858290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586342
SamplesHuRef
Known GenesPRAMEF13, PRAMEF15, PRAMEF18, PRAMEF19, PRAMEF9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001235
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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