A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16459



Internal ID11033693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75551311..75560545hg38UCSC Ensembl
Innerchr3:75600462..75609696hg19UCSC Ensembl
Innerchr3:75683152..75692386hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg389235
hg199235
hg189235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26581
Supporting Variantsessv40420, essv54477, essv75479, essv79483, essv77780, essv81862
SamplesNA12414, NA12878, NA19114, NA19099, NA06985, NA12749
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)esv16459
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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