A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12313



Internal ID11029547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54728244..54790379hg38UCSC Ensembl
Innerchr19:55239710..55301831hg19UCSC Ensembl
Innerchr19:59931522..59993643hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3862136
hg1962122
hg1862122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26630
Supporting Variantsessv81019, essv83195, essv43806, essv40037, essv67342, essv81954, essv51656
SamplesNA19114, NA11931, NA12828, NA11995, NA19190, NA18909, NA12878
Known GenesKIR2DL1, KIR2DL3, KIR3DL3
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)esv12313
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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