A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14002



Internal ID11377921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107360790..107372744hg38UCSC Ensembl
Innerchr11:107231516..107243470hg19UCSC Ensembl
Innerchr11:106736726..106748680hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3811955
hg1911955
hg1811955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26501
Supporting Variantsessv36156, essv65622
SamplesNA18907, NA19240
Known GenesCWF19L2
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)esv14002
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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