A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28793



Internal ID11046026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27630138..27683829hg38UCSC Ensembl
Innerchr17:25957164..26010855hg19UCSC Ensembl
Innerchr17:22981291..23034982hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3853692
hg1953692
hg1853692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18742, esv21389
SamplesNA18916, NA18907, NA18858, NA19240, NA19129, NA18511
Known GenesLGALS9
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)esv28793
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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