A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20476



Internal ID11384395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33086008..33506955hg38UCSC Ensembl
Innerchr16:33097329..33309422hg19UCSC Ensembl
Innerchr16:33004830..33216923hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38420948
hg19212094
hg18212094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24815
Supporting Variantsessv39630, essv52784
SamplesNA18508, NA12287
Known GenesLOC390705, TP53TG3, 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)esv20476
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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