A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17606



Internal ID11034840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112150007..112162171hg38UCSC Ensembl
Innerchr1:112692629..112704793hg19UCSC Ensembl
Innerchr1:112494152..112506316hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3812165
hg1912165
hg1812165
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27061
Supporting Variantsessv42682, essv41083, essv52761, essv72039, essv75923, essv49812, essv65421, essv55802, essv67791, essv70338, essv54245, essv81786, essv66987, essv69588, essv83162, essv32800, essv42242, essv74588, essv38164, essv44091, essv47642, essv45233, essv35965, essv58785, essv34094, essv61896, essv77038
SamplesNA18502, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12044, NA12828, NA12489, NA12878, NA18907, NA19114, NA12239, NA19099, NA19257, NA19225, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129, NA18511, 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)esv17606
Frequency
Sample Size40
Observed Gain25
Observed Loss2
Observed Complex0
Frequencyn/a


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