A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22037



Internal ID11039270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102223226..102248955hg38UCSC Ensembl
Innerchr14:102689563..102715292hg19UCSC Ensembl
Innerchr14:101759316..101785045hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3825730
hg1925730
hg1825730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20455, esv17464
SamplesNA12828, NA12878
Known GenesMOK, WDR20
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)esv22037
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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