A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23286



Internal ID11040519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:35515080..35520891hg38UCSC Ensembl
Innerchr11:35536628..35542439hg19UCSC Ensembl
Innerchr11:35493204..35499015hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385812
hg195812
hg185812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17109, esv15211
SamplesNA12828, NA11894, NA11995, NA19190, NA07045, NA12239, NA18502
Known GenesPAMR1
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)esv23286
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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