A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13706



Internal ID11377625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20373156..20384777hg38UCSC Ensembl
Innerchr15:20578409..20590030hg19UCSC Ensembl
Innerchr15:18838423..18850044hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg3811622
hg1911622
hg1811622
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22518
Supporting Variantsessv79211, essv45373, essv52332, essv36694, essv69805, essv80352, essv56209, essv59812
SamplesNA11995, NA12044, NA11894, NA18523, NA12749, NA19129, NA12006, NA12776
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)esv13706
Frequency
Sample Size40
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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