A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17527



Internal ID11381446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28670133..28706988hg38UCSC Ensembl
Innerchr22:29066121..29102976hg19UCSC Ensembl
Innerchr22:27396121..27432976hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3836856
hg1936856
hg1836856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22533
Supporting Variantsessv35901, essv47617, essv66121, essv62826, essv33802, essv74589
SamplesNA18502, NA18861, NA12004, NA18907, NA15510, NA19240
Known GenesCHEK2, TTC28
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)esv17527
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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