A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21240



Internal ID11038474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18728770..18734422hg38UCSC Ensembl
Innerchr22:18716283..18721935hg19UCSC Ensembl
Innerchr22:17096283..17101935hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385653
hg195653
hg185653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22247
Supporting Variantsessv78449, essv66450, essv59680, essv54814, essv62794, essv46060, essv71215, essv49679, essv63793, essv82755, essv34738, essv33271, essv53359, essv79945
SamplesNA18502, NA11995, NA18508, NA19190, NA18916, NA12828, NA07045, NA15510, NA19099, NA06985, NA18523, NA19147, NA18517, NA19129
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)esv21240
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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