A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10722



Internal ID11027956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18775270..18890485hg38UCSC Ensembl
Innerchr22:18762783..18877998hg19UCSC Ensembl
Innerchr22:17142783..17257998hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38115216
hg19115216
hg18115216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22247
Supporting Variantsessv43793, essv51909, essv53906, essv71328, essv66647, essv47125, essv57414, essv74311, essv73610
SamplesNA18861, NA18508, NA12004, NA18916, NA12156, NA12828, NA11993, NA18909, NA12006
Known GenesGGT3P
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)esv10722
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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