A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15096



Internal ID11032330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13184700..13222477hg38UCSC Ensembl
Innerchr1:13320047..13329531hg19UCSC Ensembl
Innerchr1:13192634..13202118hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3837778
hg199485
hg189485
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25471
Supporting Variantsessv46189, essv46745, essv75854
SamplesNA18861, NA12414, NA19129
Known GenesPRAMEF22, PRAMEF3
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)esv15096
Frequency
Sample Size40
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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