A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15169



Internal ID11379088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81132781..81134461hg38UCSC Ensembl
Innerchr8:82045016..82046696hg19UCSC Ensembl
Innerchr8:82207571..82209251hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21702
Supporting Variantsessv54171, essv66078, essv81834, essv61576, essv63815, essv47868, essv38195, essv69518, essv45246, essv59319, essv75514, essv70985, essv50338, essv60514
SamplesNA18861, NA18508, NA12414, NA18916, NA12044, NA07045, NA19114, NA12239, NA19257, NA18523, NA19108, NA18517, NA19240, NA19129
Known Genes
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)esv15169
Frequency
Sample Size40
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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