A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18185



Internal ID11382104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32592102..32593017hg38UCSC Ensembl
Innerchr6:32559879..32560794hg19UCSC Ensembl
Innerchr6:32667857..32668772hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38916
hg19916
hg18916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv82563, essv73149, essv50535, essv60795, essv63341, essv68873, essv42747, essv47777
SamplesNA18861, NA19190, NA15510, NA19225, NA18523, NA18858, NA18909, NA18517
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)esv18185
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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