A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16962



Internal ID11380881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28413170..28424928hg38UCSC Ensembl
Innerchr15:28658316..28670074hg19UCSC Ensembl
Innerchr15:26331911..26343669hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3811759
hg1911759
hg1811759
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22824
Supporting Variantsessv62746, essv40777, essv76278, essv64773, essv75129, essv71724, essv70774, essv83637, essv54338, essv56166, essv42530, essv50961, essv38435, essv53128, essv47129, essv78529, essv46702, essv58765, essv70041, essv79955, essv36909
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12044, NA12878, NA07045, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18909, NA19108, NA19129, 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)esv16962
Frequency
Sample Size40
Observed Gain10
Observed Loss11
Observed Complex0
Frequencyn/a


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