A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13725



Internal ID11030959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87893078..87893955hg38UCSC Ensembl
Innerchr10:89652835..89653712hg19UCSC Ensembl
Innerchr10:89642815..89643692hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38878
hg19878
hg18878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25064
Supporting Variantsessv70177, essv33579, essv48553, essv71860, essv50665, essv43406, essv42502, essv74603, essv62006, essv84111, essv62413, essv53991, essv39779, essv66603, essv65654, essv35720, essv46221, essv80326, essv51858, essv34860, essv37196, essv58771, essv60092, essv49994, essv82283, essv77770, essv54910, essv79006
SamplesNA18502, NA11995, NA18508, NA11931, NA12004, NA19190, NA18916, NA12287, NA12828, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006
Known GenesPTEN
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)esv13725
Frequency
Sample Size40
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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