A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13016



Internal ID11030250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21164803..21168440hg38UCSC Ensembl
Innerchr22:21519092..21522729hg19UCSC Ensembl
Innerchr22:19849092..19852729hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383638
hg193638
hg183638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28075
Supporting Variantsessv64127, essv40132, essv54098, essv32238, essv68972, essv58427, essv60438, essv63069, essv35202, essv37430, essv39003, essv46667, essv71591, essv72717, essv37672, essv83569, essv73937, essv54591, essv35081, essv78312, essv43572, essv49442, essv79914
SamplesNA18502, NA11995, NA18508, NA19190, NA18916, NA12287, NA12156, NA12878, NA18907, NA07045, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19129
Known GenesFAM230B
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)esv13016
Frequency
Sample Size40
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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