A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28787



Internal ID11046020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14688324..14771151hg38UCSC Ensembl
Innerchr16:14782181..14865008hg19UCSC Ensembl
Innerchr16:14689682..14772509hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3882828
hg1982828
hg1882828
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19409, esv13852
SamplesNA18502, NA18861, NA19190, NA18907, NA19114, NA12239, NA19225, NA06985, NA18523, NA18858, NA19147, NA18517, NA19129
Known GenesNPIPA2, NPIPA3, PLA2G10
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)esv28787
Frequency
Sample Size40
Observed Gain12
Observed Loss1
Observed Complex0
Frequencyn/a


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