A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20267



Internal ID11037501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181284228..181403474hg38UCSC Ensembl
Innerchr5:180711229..180830475hg19UCSC Ensembl
Innerchr5:180643835..180763081hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38119247
hg19119247
hg18119247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28275
Supporting Variantsessv41492
SamplesNA18505
Known GenesLOC100132062, LOC100132287, LOC100133331, OR4F16, OR4F29, OR4F3
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)esv20267
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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