A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16656



Internal ID11380575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24254071..24265811hg38UCSC Ensembl
Innerchr22:24650039..24661779hg19UCSC Ensembl
Innerchr22:22980039..22991779hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3811741
hg1911741
hg1811741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24290
Supporting Variantsessv53832, essv33433, essv77669, essv81070, essv33960, essv74296, essv54394, essv37173, essv46815
SamplesNA18502, NA11995, NA18861, NA18508, NA12004, NA11894, NA19099, NA06985, NA19147
Known GenesPOM121L9P
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)esv16656
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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