A curated catalogue of human genomic structural variation




Variant Details

Variant: essv65973



Internal ID11024622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118411322..118411861hg38UCSC Ensembl
Innerchr11:118282037..118282576hg19UCSC Ensembl
Innerchr11:117787247..117787786hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38540
hg19540
hg18540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19502
Supporting Variants
SamplesNA19240
Known GenesLOC100131626
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)essv65973
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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