A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19593



Internal ID11036827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19709051..19956594hg38UCSC Ensembl
Innerchr14:20177210..20424753hg19UCSC Ensembl
Innerchr14:19247050..19494593hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38247544
hg19247544
hg18247544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23873
Supporting Variantsessv74766, essv77789, essv65527, essv32720, essv66693, essv52044
SamplesNA12004, NA12828, NA06985, NA19147, NA19240, NA12006
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)esv19593
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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