A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17507



Internal ID11381426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:108557767..108562009hg38UCSC Ensembl
Innerchr6:108878970..108883212hg19UCSC Ensembl
Innerchr6:108985663..108989905hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384243
hg194243
hg184243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22566
Supporting Variantsessv63892
SamplesNA07045
Known GenesFOXO3
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)esv17507
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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