A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27929



Internal ID11045162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15360393..15387621hg38UCSC Ensembl
Innerchr16:15454250..15481478hg19UCSC Ensembl
Innerchr16:15361751..15388979hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3827229
hg1927229
hg1827229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17993
SamplesNA12239
Known GenesNPIPA5
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)esv27929
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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