A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17262



Internal ID11381181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16367379..16381848hg38UCSC Ensembl
Innerchr22:16848041..16862510hg19UCSC Ensembl
Innerchr22:15228041..15242510hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3814470
hg1914470
hg1814470
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21839
Supporting Variantsessv48495, essv76797, essv69376, essv52209, essv51133, essv80580, essv39895, essv78664, essv63337, essv59735, essv67281, essv78469, essv65826, essv71275, essv56322, essv59035
SamplesNA11995, NA11931, NA18916, NA12287, NA12044, NA12828, NA15510, NA06985, NA18523, NA19108, NA19240, NA07037, NA12749, NA12006, 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)esv17262
Frequency
Sample Size40
Observed Gain1
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer