A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19209



Internal ID11383128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9339880..9341349hg38UCSC Ensembl
Innerchr20:9320527..9321996hg19UCSC Ensembl
Innerchr20:9268527..9269996hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381470
hg191470
hg181470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23892
Supporting Variantsessv52262, essv70114, essv75048, essv60452, essv68788, essv58674, essv42089, essv78531, essv82288, essv57427
SamplesNA12004, NA18916, NA11993, NA19114, NA06985, NA18523, NA18858, NA19108, NA18505, NA12006
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)esv19209
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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