A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14863



Internal ID11032097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32625138..32636407hg38UCSC Ensembl
Innerchr6:32592915..32604184hg19UCSC Ensembl
Innerchr6:32700893..32712162hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3811270
hg1911270
hg1811270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv65212, essv35902, essv60632, essv40564, essv50784, essv76759, essv76002, essv47176, essv71485, essv36681, essv45829, essv37945, essv48739
SamplesNA18861, NA12414, NA11931, NA18916, NA12878, NA18907, NA11894, NA19257, NA18523, NA19240, NA07037, NA19129, NA18511
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)esv14863
Frequency
Sample Size40
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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