A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19244



Internal ID11036478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9188556..9189526hg38UCSC Ensembl
Innerchr20:9169203..9170173hg19UCSC Ensembl
Innerchr20:9117203..9118173hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38971
hg19971
hg18971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23697
Supporting Variantsessv33300, essv70335
SamplesNA19147, NA18916
Known GenesPLCB4
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)esv19244
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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