A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19013



Internal ID11382932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99620454..99621229hg38UCSC Ensembl
Innerchr11:99491185..99491960hg19UCSC Ensembl
Innerchr11:98996395..98997170hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38776
hg19776
hg18776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24648
Supporting Variantsessv39363, essv53187, essv32829, essv40349, essv72752, essv56791, essv57431
SamplesNA18508, NA12287, NA11993, NA12878, NA19225, NA19147, NA12776
Known GenesCNTN5
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)esv19013
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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