A curated catalogue of human genomic structural variation




Variant Details

Variant: essv60295



Internal ID11352214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15926864..15929666hg38UCSC Ensembl
Innerchr19:16037674..16040476hg19UCSC Ensembl
Innerchr19:15898674..15901476hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382803
hg192803
hg182803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv20980
Supporting Variants
SamplesNA18523
Known GenesCYP4F11
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)essv60295
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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