A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586342



Internal ID6711038
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001235
Supporting Variants
SamplesHuRef
Known GenesPRAMEF13, PRAMEF15, PRAMEF18, PRAMEF19, PRAMEF9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586342
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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