A curated catalogue of human genomic structural variation




Variant Details

Variant: essv47972



Internal ID11008979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13225431..13235313hg38UCSC Ensembl
Innerchr1:13329531..13340891hg19UCSC Ensembl
Innerchr1:13202118..13213478hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389883
hg1911361
hg1811361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17055
Supporting Variants
SamplesNA18861
Known GenesPRAMEF22, PRAMEF3
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)essv47972
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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