A curated catalogue of human genomic structural variation




Variant Details

Variant: essv42690



Internal ID11010740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54817797..54848660hg38UCSC Ensembl
Innerchr19:55329252..55360115hg19UCSC Ensembl
Innerchr19:60021064..60051927hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3830864
hg1930864
hg1830864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv10719
Supporting Variants
SamplesNA18909
Known GenesKIR2DS4, KIR3DL1
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)essv42690
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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