A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22131



Internal ID4353032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52189302..52192962hg38UCSC Ensembl
Innerchr19:52692555..52696215hg19UCSC Ensembl
Innerchr19:57384367..57388027hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383661
hg193661
hg183661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21017
SamplesNA12239
Known GenesPPP2R1A
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)esv22131
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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