A curated catalogue of human genomic structural variation




Variant Details

Variant: essv54632



Internal ID11360622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32644691..32696863hg38UCSC Ensembl
Innerchr16:32656012..32708184hg19UCSC Ensembl
Innerchr16:32563513..32615685hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3852173
hg1952173
hg1852173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv14303
Supporting Variants
SamplesNA19099
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)essv54632
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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