A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11616



Internal ID11028850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132148842..132150797hg38UCSC Ensembl
Innerchr12:132633387..132635342hg19UCSC Ensembl
Innerchr12:131199340..131201295hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381956
hg191956
hg181956
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29137
Supporting Variantsessv79255, essv49744, essv77656, essv51928, essv41891, essv83992, essv35164, essv50705, essv48257, essv59913, essv74249, essv53999, essv66557, essv56142, essv64865, essv80471
SamplesNA11995, NA18508, NA11931, NA12004, NA19190, NA12828, NA18907, NA07045, NA06985, NA18523, NA18517, NA07037, NA12749, NA18505, NA12006, NA12776
Known GenesNOC4L
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)esv11616
Frequency
Sample Size40
Observed Gain1
Observed Loss15
Observed Complex0
Frequencyn/a


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