A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23876



Internal ID11041109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80071173..80073440hg38UCSC Ensembl
Innerchr18:77831173..77831853hg19UCSC Ensembl
Innerchr18:75932161..75932841hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382268
hg19681
hg18681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17161
SamplesNA07037, NA12828, NA12414, NA18508, NA19190, NA18907, NA12749, NA12156
Known GenesRBFADN
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)esv23876
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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