A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18780



Internal ID11036014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5350780..5363579hg38UCSC Ensembl
Innerchr11:5372010..5384809hg19UCSC Ensembl
Innerchr11:5328586..5341385hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3812800
hg1912800
hg1812800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26010
Supporting Variantsessv37269, essv83123, essv48957, essv66667, essv76641, essv43394
SamplesNA19190, NA12828, NA11894, NA18909, NA07037, NA18511
Known GenesOR51B5, OR51B6
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)esv18780
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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