A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18569



Internal ID11035803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150679152..150700437hg38UCSC Ensembl
Innerchr5:150058714..150079999hg19UCSC Ensembl
Innerchr5:150038907..150060192hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3821286
hg1921286
hg1821286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29484
Supporting Variantsessv74505, essv63781
SamplesNA12004, NA07045
Known GenesMYOZ3, RBM22
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)esv18569
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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