A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13891



Internal ID11377810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:147109..155538hg19UCSC Ensembl
Innerchr12:17370..25799hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg198430
hg188430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24198
Supporting Variantsessv83234, essv82075, essv49237, essv66582, essv55496, essv41722
SamplesNA19190, NA12828, NA19114, NA19099, NA07037, NA18505
Known GenesFAM138D
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)esv13891
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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