A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23840



Internal ID11041073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15881982..15930025hg38UCSC Ensembl
Innerchr16:15975839..16023882hg19UCSC Ensembl
Innerchr16:15883340..15931383hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3848044
hg1948044
hg1848044
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18889, esv17790
SamplesNA18502, NA18858
Known GenesFOPNL
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)esv23840
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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