A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18560



Internal ID11035794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13200488..13202661hg38UCSC Ensembl
Innerchr16:13294345..13296518hg19UCSC Ensembl
Innerchr16:13201846..13204019hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382174
hg192174
hg182174
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22866
Supporting Variantsessv33678, essv75113, essv83367, essv79477, essv52997, essv69101, essv61032, essv62811, essv51522, essv38406, essv56745, essv67379, essv59428, essv36600, essv50142, essv73989, essv55127, essv34509
SamplesNA18502, NA18508, NA11931, NA12004, NA19190, NA12156, NA12044, NA12828, NA11894, NA12239, NA15510, NA19099, NA19257, NA19108, NA19147, NA18517, NA12749, NA12776
Known GenesSHISA9
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)esv18560
Frequency
Sample Size40
Observed Gain15
Observed Loss3
Observed Complex0
Frequencyn/a


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