A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23670



Internal ID11040903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14954870..15030235hg38UCSC Ensembl
Innerchr16:15048727..15124092hg19UCSC Ensembl
Innerchr16:14956228..15031593hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3875366
hg1975366
hg1875366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17354
SamplesNA11894, NA19190
Known GenesMIR1972-1, MIR1972-2, PDXDC1
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)esv23670
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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