A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18781



Internal ID11036015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98142463..98144115hg38UCSC Ensembl
Innerchr13:98794717..98796369hg19UCSC Ensembl
Innerchr13:97592718..97594370hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381653
hg191653
hg181653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27463
Supporting Variantsessv38130, essv64168, essv74106, essv83507
SamplesNA19190, NA12156, NA07045, NA19257
Known GenesFARP1
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)esv18781
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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