A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14129



Internal ID11031363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80487487..80490097hg38UCSC Ensembl
Innerchr17:78461287..78463897hg19UCSC Ensembl
Innerchr17:76075882..76078492hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382611
hg192611
hg182611
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24254
Supporting Variantsessv42805, essv68740, essv53810, essv60279, essv51688, essv48628, essv54472, essv83121, essv71501, essv38708
SamplesNA18508, NA19190, NA18916, NA19099, NA19257, NA18523, NA18858, NA18909, NA07037, NA12006
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)esv14129
Frequency
Sample Size40
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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