A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14841



Internal ID11032075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54734352..54746133hg38UCSC Ensembl
Innerchr19:55245819..55257585hg19UCSC Ensembl
Innerchr19:59937631..59949397hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3811782
hg1911767
hg1811767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26630
Supporting Variantsessv64338, essv52100
SamplesNA12006, NA07045
Known GenesKIR2DL3, 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)esv14841
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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