A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20527



Internal ID11384446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18212607..18935960hg38UCSC Ensembl
Innerchr22:18695374..18923473hg19UCSC Ensembl
Innerchr22:17075374..17303473hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38723354
hg19228100
hg18228100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22247
Supporting Variantsessv55088, essv80935, essv46325, essv77606, essv81647, essv68679, essv50052, essv60597, essv83454, essv32725
SamplesNA11995, NA19190, NA19114, NA19099, NA06985, NA18523, NA18858, NA19147, NA18517, NA19129
Known GenesDGCR6, GGT3P, PRODH
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)esv20527
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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