A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19513



Internal ID11036747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19821521..19957153hg38UCSC Ensembl
Innerchr14:20289680..20425312hg19UCSC Ensembl
Innerchr14:19359520..19495152hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38135633
hg19135633
hg18135633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23873
Supporting Variantsessv34904, essv80066, essv36115, essv43201, essv82233, essv59869, essv53844, essv38930, essv47941, essv69052, essv41165, essv49638, essv48767, essv68700
SamplesNA18502, NA11995, NA18861, NA18508, NA12287, NA12044, NA18907, NA19114, NA18523, NA18858, NA18909, NA18517, NA07037, NA18505
Known GenesOR4K1, OR4K2, OR4K5, OR4N2
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)esv19513
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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