A curated catalogue of human genomic structural variation




Variant Details

Variant: essv56720



Internal ID10993804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19938963hg38UCSC Ensembl
Innerchr14:19782788..20407122hg19UCSC Ensembl
Innerchr14:18852788..19476962hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38708015
hg19624335
hg18624175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv15029
Supporting Variants
SamplesNA12776
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
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)essv56720
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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