A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27015



Internal ID11390934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241570263..241571310hg38UCSC Ensembl
Innerchr2:242509678..242510725hg19UCSC Ensembl
Innerchr2:242158351..242159398hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381048
hg191048
hg181048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12666, esv21313
SamplesNA18502, NA19190, NA12156, NA12828, NA11993, NA19114, NA15510, NA19099, NA19257, NA06985
Known GenesBOK
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)esv27015
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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