A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28448



Internal ID11392367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57138689..57214756hg38UCSC Ensembl
Innerchr13:57712823..57788890hg19UCSC Ensembl
Innerchr13:56610824..56686891hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3876068
hg1976068
hg1876068
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21382, esv12987, esv15293
SamplesNA18502, NA11995, NA18861, NA18508, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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)esv28448
Frequency
Sample Size40
Observed Gain28
Observed Loss29
Observed Complex0
Frequencyn/a


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