A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22842



Internal ID11040075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55597201..55836114hg38UCSC Ensembl
Innerchr11:55364677..55603590hg19UCSC Ensembl
Innerchr11:55121253..55360166hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38238914
hg19238914
hg18238914
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12024, esv21129, esv17778, esv16258, esv13959
SamplesNA18861, NA18511, NA12828, NA12776, NA19257, NA15510, NA12414, NA11894, NA18916, NA12006, NA12239, NA19129, NA06985, NA18502, NA18907, NA12878, NA19225
Known GenesOR4C11, OR4C6, OR4P4, OR4S2, OR5D13, OR5D14, OR5D18, OR5L1, OR5L2
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)esv22842
Frequency
Sample Size40
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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