A curated catalogue of human genomic structural variation




Variant Details

Variant: essv82710



Internal ID11021273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14955006..15030209hg38UCSC Ensembl
Innerchr16:15048863..15124066hg19UCSC Ensembl
Innerchr16:14956364..15031567hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3875204
hg1975204
hg1875204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17354
Supporting Variants
SamplesNA19190
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)essv82710
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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