A curated catalogue of human genomic structural variation




Variant Details

Variant: essv54232



Internal ID11013619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54843322..54861226hg38UCSC Ensembl
Innerchr19:55354777..55372681hg19UCSC Ensembl
Innerchr19:60046589..60064493hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817905
hg1917905
hg1817905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv9800
Supporting Variants
SamplesNA19099
Known GenesKIR2DS4, KIR3DL2
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)essv54232
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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