A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19644



Internal ID11383563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11878866..11881423hg38UCSC Ensembl
Innerchr2:12018992..12021549hg19UCSC Ensembl
Innerchr2:11936443..11939000hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382558
hg192558
hg182558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29387
Supporting Variantsessv55441, essv64342, essv66271, essv46140, essv74409, essv51178, essv77219, essv73103, essv56441, essv60035, essv42101, essv46913, essv67545, essv78086, essv83440, essv70278, essv36683, essv53445, essv73761, essv62541, essv37746, essv33986, essv33281
SamplesNA18502, NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12156, NA07045, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA19147, 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)esv19644
Frequency
Sample Size40
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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