A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18932



Internal ID11036166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10737756..10814516hg38UCSC Ensembl
Innerchr21:10697941..10774701hg19UCSC Ensembl
Innerchr21:9719812..9796572hg18UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3876761
hg1976761
hg1876761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28756
Supporting Variantsessv76343, essv36440, essv74955, essv36936, essv50532, essv57872, essv43328, essv45908, essv76725, essv61524, essv71004, essv68555, essv55839, essv77760, essv41939
SamplesNA12414, NA12004, NA18916, NA11993, NA18907, NA11894, NA12239, NA06985, NA18858, NA18909, NA18517, NA18505, NA19129, NA18511, NA12776
Known Genes
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)esv18932
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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