A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10726



Internal ID11027960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181349967..181469485hg38UCSC Ensembl
Innerchr5:180776968..180896486hg19UCSC Ensembl
Innerchr5:180709574..180829092hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38119519
hg19119519
hg18119519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28275
Supporting Variantsessv72793
SamplesNA19225
Known GenesOR4F16, 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)esv10726
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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