A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12982



Internal ID11030216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82360189..82372076hg38UCSC Ensembl
Innerchr15:82652417..82664278hg19UCSC Ensembl
Innerchr15:80439472..80451333hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3811888
hg1911862
hg1811862
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24498
Supporting Variantsessv70133, essv56334, essv44326, essv36962, essv42600, essv58938, essv69798, essv48131, essv78968
SamplesNA18916, NA12044, NA12489, NA11894, NA18909, NA19108, NA07037, NA12749, NA12776
Known GenesUBE2Q2P2, UBE2Q2P3
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)esv12982
Frequency
Sample Size40
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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