A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14720



Internal ID11031954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10650591..10745800hg38UCSC Ensembl
Innerchr21:10766657..10861866hg19UCSC Ensembl
Innerchr21:9788528..9883737hg18UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3895210
hg1995210
hg1895210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28756
Supporting Variantsessv34107, essv76087, essv65343, essv50870, essv38100, essv67070, essv79803, essv44743, essv82718, essv54405, essv71823, essv80276, essv63614, essv58736, essv37542, essv60337, essv78591, essv49236, essv55996, essv40999, essv69871, essv35782, essv71480, essv38874, essv53773
SamplesNA18502, NA11995, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12044, NA12828, NA12489, NA12878, NA18907, NA07045, NA11894, NA19099, NA19257, NA19225, NA06985, NA18523, NA19108, NA19240, NA07037, NA12749, NA12776
Known Genes
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)esv14720
Frequency
Sample Size40
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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