A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28197



Internal ID11045430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42483195..42609208hg38UCSC Ensembl
Innerchr22:42879201..43005214hg19UCSC Ensembl
Innerchr22:41209145..41335158hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38126014
hg19126014
hg18126014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12735, esv14437, esv17594, esv11569
SamplesNA18502, NA12414, NA12287, NA12044, NA19114, NA19099, NA06985, NA18858, NA19108, NA19147, NA18517, NA18505, NA18511
Known GenesPOLDIP3, RRP7A, RRP7B, SERHL, SERHL2
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)esv28197
Frequency
Sample Size40
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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