A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10162



Internal ID11027396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205407368..205660563hg38UCSC Ensembl
Innerchr2:206272092..206525287hg19UCSC Ensembl
Innerchr2:205980337..206233532hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38253196
hg19253196
hg18253196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25775
Supporting Variantsessv39458, essv83937, essv72897, essv77688, essv57580, essv47748, essv79357
SamplesNA18861, NA19190, NA12287, NA11993, NA19225, NA06985, NA12749
Known GenesPARD3B
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)esv10162
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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