A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21332



Internal ID11385251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23683422..23685476hg38UCSC Ensembl
Innerchr22:24025609..24027663hg19UCSC Ensembl
Innerchr22:22355609..22357663hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382055
hg192055
hg182055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29866
Supporting Variantsessv77855, essv58134, essv38485, essv80067, essv41919, essv45687, essv55373, essv69355, essv74551, essv62712, essv52052, essv40413, essv42947, essv64024, essv65143, essv53366, essv72993, essv56381, essv36280, essv75881, essv66463, essv47428, essv36644, essv82197, essv32348, essv77071, essv39237, essv71543, essv79810, essv83003, essv60764
SamplesNA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12044, NA12828, NA12878, NA18907, NA07045, NA19114, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA19240, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesGUSBP11
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)esv21332
Frequency
Sample Size40
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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