A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10582



Internal ID11027816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80743760..80745025hg38UCSC Ensembl
Innerchr17:78717560..78718825hg19UCSC Ensembl
Innerchr17:76332155..76333420hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381266
hg191266
hg181266
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26223
Supporting Variantsessv39636, essv57882, essv61354, essv53842, essv81170, essv80697, essv49736, essv78074, essv60900, essv64039, essv73304, essv45567, essv69019, essv38781, essv33887, essv63135, essv33225, essv51895, essv40686, essv50871, essv37078, essv83105
SamplesNA18502, NA11995, NA18508, NA11931, NA19190, NA12287, NA12156, NA12044, NA11993, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19257, NA06985, NA18523, NA19147, NA18517, NA19129, NA12006
Known GenesRPTOR
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)esv10582
Frequency
Sample Size40
Observed Gain3
Observed Loss19
Observed Complex0
Frequencyn/a


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