A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11403



Internal ID11375322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239644415..239644980hg38UCSC Ensembl
Innerchr2:240566109..240566674hg19UCSC Ensembl
Innerchr2:240231046..240231611hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38566
hg19566
hg18566
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24089
Supporting Variantsessv46895, essv71313, essv63516, essv68365, essv49360, essv82482, essv35603, essv77815, essv39839, essv60267, essv41381, essv79512, essv36631, essv32525, essv75886
SamplesNA18861, NA12414, NA18916, NA12287, NA18907, NA19114, NA11894, NA15510, NA06985, NA18523, NA18858, NA19147, NA18517, NA12749, NA18505
Known Genes
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)esv11403
Frequency
Sample Size40
Observed Gain1
Observed Loss14
Observed Complex0
Frequencyn/a


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