A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18784



Internal ID11036018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5361495..5362845hg38UCSC Ensembl
Innerchr11:5382725..5384075hg19UCSC Ensembl
Innerchr11:5339301..5340651hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381351
hg191351
hg181351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26010
Supporting Variantsessv70127, essv60629, essv45864, essv39634, essv79171, essv64335, essv74663, essv53288, essv40198, essv48025, essv71729, essv51983, essv66085, essv58371, essv68496, essv80289, essv76167, essv62139, essv38836
SamplesNA11995, NA18861, NA18508, NA12414, NA12004, NA18916, NA12287, NA12878, NA07045, NA12239, NA19257, NA19225, NA18523, NA18858, NA19108, NA19240, NA12749, NA19129, NA12006
Known GenesOR51B5
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)esv18784
Frequency
Sample Size40
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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