A curated catalogue of human genomic structural variation

Variant Details

Variant: esv28321

Internal ID11045554
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83998778..84001856hg38UCSC Ensembl
Innerchr16:84032383..84035461hg19UCSC Ensembl
Innerchr16:82589884..82592962hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17645, esv9866
SamplesNA18523, NA18511, NA19257, NA19108, NA18505, NA18508, NA18916, NA19190, NA19129, NA18502, NA18858, NA18907, NA18909, NA19225, NA19240
Known GenesNECAB2
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
Pubmed ID19812545
Accession Number(s)esv28321
Sample Size40
Observed Gain0
Observed Loss15
Observed Complex0

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