A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16847



Internal ID11380766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:105197..112540hg38UCSC Ensembl
Innerchr18:105197..112540hg19UCSC Ensembl
Innerchr18:95197..102540hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg387344
hg197344
hg187344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24223
Supporting Variantsessv69164, essv35238, essv65852, essv80070, essv52900, essv51103
SamplesNA11995, NA18508, NA11931, NA12044, NA18907, NA19240
Known GenesMIR8078, ROCK1P1
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)esv16847
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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