A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19986



Internal ID11037220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7966769..7980227hg38UCSC Ensembl
Innerchr8:7824291..7837749hg19UCSC Ensembl
Innerchr8:7861701..7875159hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3813459
hg1913459
hg1813459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25631
Supporting Variantsessv40182, essv51247, essv66852, essv56672, essv36876, essv59879, essv76225, essv58556, essv78877, essv65311, essv42974, essv69877, essv70650, essv77521, essv79965, essv53417, essv38949, essv64152, essv44336
SamplesNA12489, NA18523, NA11931, NA12828, NA12776, NA19108, NA12044, NA12287, NA12414, NA18508, NA11894, NA11995, NA18916, NA07045, NA06985, NA18909, NA12749, NA12878, NA19240
Known GenesFAM66E, USP17L3, USP17L8
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)esv19986
Frequency
Sample Size40
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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