A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16603



Internal ID11380522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18174560..18201281hg38UCSC Ensembl
Innerchr22:18657327..18684048hg19UCSC Ensembl
Innerchr22:17037327..17064048hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3826722
hg1926722
hg1826722
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22247
Supporting Variantsessv59740, essv67675, essv51941, essv82069, essv78549, essv53609, essv50280, essv33660, essv54943, essv44695, essv83590, essv80408, essv46209
SamplesNA11995, NA18508, NA19190, NA12489, NA19114, NA19099, NA06985, NA18523, NA18858, NA19147, NA18517, NA19129, NA12006
Known GenesUSP18
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)esv16603
Frequency
Sample Size40
Observed Gain12
Observed Loss1
Observed Complex0
Frequencyn/a


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