A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17014



Internal ID11380933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12088483..12203976hg38UCSC Ensembl
Innerchr8:11945992..12061857hg19UCSC Ensembl
Innerchr8:11983401..12099266hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38115494
hg19115866
hg18115866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22986
Supporting Variantsessv35147, essv67694, essv42916, essv72405, essv38780, essv73717, essv60993, essv34009, essv47420
SamplesNA18502, NA18861, NA12156, NA18907, NA12239, NA19257, NA19225, NA18858, NA18909
Known GenesFAM66D, FAM86B1, FAM90A2P, LOC392196, USP17L2, USP17L7, ZNF705D
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)esv17014
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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