A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14303



Internal ID11378222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32644509..32696921hg38UCSC Ensembl
Innerchr16:32655830..32708242hg19UCSC Ensembl
Innerchr16:32563331..32615743hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3852413
hg1952413
hg1852413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27116
Supporting Variantsessv69768, essv41714, essv64889, essv44222, essv79392, essv54632, essv82029
SamplesNA12044, NA12489, NA19114, NA19099, NA19240, NA12749, NA18505
Known GenesTP53TG3, TP53TG3B, TP53TG3C
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)esv14303
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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