A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18444



Internal ID11035678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13326444..13329531hg19UCSC Ensembl
Innerchr1:13199031..13202118hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg193088
hg183088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25471
Supporting Variantsessv65385, essv75405
SamplesNA12414, NA19240
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)esv18444
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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