A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12489



Internal ID11029723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106397503..106430360hg38UCSC Ensembl
Innerchr14:106853415..106886267hg19UCSC Ensembl
Innerchr14:105924460..105957312hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3832858
hg1932853
hg1832853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv58550, essv41209, essv54021, essv47023, essv34271, essv65264, essv60933, essv32931, essv37722
SamplesNA18502, NA18861, NA18508, NA19257, NA18523, NA19108, NA19147, NA19240, 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)esv12489
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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