A curated catalogue of human genomic structural variation




Variant Details

Variant: essv62389



Internal ID11344679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54926794..55260157hg38UCSC Ensembl
Innerchr11:54694268..55027633hg19UCSC Ensembl
Innerchr11:54450844..54784209hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38333364
hg19333366
hg18333366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12589
Supporting Variants
SamplesNA15510
Known Genes
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)essv62389
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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