A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19022



Internal ID11382941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:629060..633750hg38UCSC Ensembl
Innerchr5:629175..633865hg19UCSC Ensembl
Innerchr5:682175..686865hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384691
hg194691
hg184691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24755
Supporting Variantsessv73500, essv81221, essv79908, essv40197, essv71093, essv59284, essv77924, essv62742, essv42860, essv49923, essv36216, essv54360, essv47102, essv61979
SamplesNA11995, NA18861, NA18916, NA12156, NA12878, NA18907, NA19114, NA12239, NA15510, NA19099, NA06985, NA18909, NA19108, NA18517
Known GenesCEP72
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)esv19022
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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