A curated catalogue of human genomic structural variation




Variant Details

Variant: essv69455



Internal ID10986038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79744929..79746394hg38UCSC Ensembl
Innerchr18:77504929..77506394hg19UCSC Ensembl
Innerchr18:75605917..75607382hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381466
hg191466
hg181466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv13748
Supporting Variants
SamplesNA12044
Known GenesCTDP1
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)essv69455
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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