A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17510



Internal ID11034744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21209881..21301411hg38UCSC Ensembl
Innerchr22:21564170..21655700hg19UCSC Ensembl
Innerchr22:19894170..19985700hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3891531
hg1991531
hg1891531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28075
Supporting Variantsessv74723, essv57392, essv70892, essv73758, essv43599, essv67066
SamplesNA12004, NA18916, NA12156, NA12828, NA11993, NA18909
Known GenesPOM121L8P
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)esv17510
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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