A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29390



Internal ID4360291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48427043..48428607hg38UCSC Ensembl
Innerchr13:49001179..49002743hg19UCSC Ensembl
Innerchr13:47899180..47900744hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18037
SamplesNA12044
Known GenesLPAR6, RB1
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)esv29390
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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