A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13589



Internal ID11030823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105600908..105745673hg38UCSC Ensembl
Innerchr14:106067245..106212010hg19UCSC Ensembl
Innerchr14:105138290..105283055hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38144766
hg19144766
hg18144766
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv66167, essv62972, essv58870
SamplesNA15510, NA19108, NA19240
Known GenesELK2AP, MIR8071-1, MIR8071-2
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)esv13589
Frequency
Sample Size40
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer