A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23892



Internal ID11041125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9337007..9343885hg38UCSC Ensembl
Innerchr20:9317654..9324532hg19UCSC Ensembl
Innerchr20:9265654..9272532hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386879
hg196879
hg186879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16789, esv20750, esv19209, esv19610
SamplesNA11995, NA12004, NA19190, NA18916, NA11993, NA12878, NA19114, NA12239, NA19225, NA06985, NA18523, NA18858, NA19108, NA12749, 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)esv23892
Frequency
Sample Size40
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer