A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11279



Internal ID11375198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54220669..54239757hg38UCSC Ensembl
Innerchr19:54724539..54743633hg19UCSC Ensembl
Innerchr19:59416351..59435445hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819089
hg1919095
hg1819095
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23225
Supporting Variantsessv41065, essv49696, essv34985, essv79125, essv52647, essv51648, essv63946, essv70049, essv59106, essv46363, essv77199, essv70813, essv33559, essv35881, essv73738
SamplesNA18502, NA11931, NA18916, NA12156, NA12044, NA12878, NA18907, NA07045, NA19108, NA19147, NA18517, NA12749, NA19129, NA12006, NA18511
Known GenesLILRA6, LILRB3
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)esv11279
Frequency
Sample Size40
Observed Gain11
Observed Loss4
Observed Complex0
Frequencyn/a


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