A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16909



Internal ID11034143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105607744..105652123hg38UCSC Ensembl
Innerchr14:106074081..106118460hg19UCSC Ensembl
Innerchr14:105145126..105189505hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3844380
hg1944380
hg1844380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv60294, essv35415
SamplesNA18907, NA18523
Known GenesMIR8071-1, 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)esv16909
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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