A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20457



Internal ID11037691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13240589..13366686hg38UCSC Ensembl
Innerchr1:13346211..13472308hg19UCSC Ensembl
Innerchr1:13218798..13344895hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38126098
hg19126098
hg18126098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25471
Supporting Variantsessv75983, essv35244, essv40793, essv32387, essv71223, essv74838, essv48781, essv81393, essv47342, essv50639, essv37167, essv63818
SamplesNA18861, NA12414, NA12004, NA18916, NA12878, NA18907, NA07045, NA19114, NA11894, NA19147, NA18517, NA07037
Known GenesPRAMEF13, PRAMEF15, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
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)esv20457
Frequency
Sample Size40
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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