A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15248



Internal ID11379167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32978661..33032426hg38UCSC Ensembl
Innerchr19:33469567..33523332hg19UCSC Ensembl
Innerchr19:38161407..38215172hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3853766
hg1953766
hg1853766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28223
Supporting Variantsessv76121, essv33120, essv65058, essv48605, essv68126, essv63385, essv84022, essv81065, essv34084, essv42783, essv47054
SamplesNA18502, NA11995, NA18861, NA12414, NA19190, NA15510, NA18858, NA18909, NA19147, NA19240, NA07037
Known GenesRHPN2
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)esv15248
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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