A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10215



Internal ID11374134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133291060..133292499hg38UCSC Ensembl
Innerchr10:135104564..135106003hg19UCSC Ensembl
Innerchr10:134954554..134955993hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381440
hg191440
hg181440
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23338
Supporting Variantsessv56941, essv68255, essv74238, essv67151, essv64617, essv75978, essv35184, essv37576, essv46255, essv40958, essv52388, essv48239, essv65917, essv44989, essv33817, essv77717, essv79898, essv62542, essv70442, essv69139, essv53632, essv76778, essv39633, essv61192
SamplesNA18502, NA11995, NA18508, NA12414, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA11894, NA12239, NA15510, NA06985, NA18858, NA19240, NA07037, NA19129, NA12006, NA18511
Known GenesTUBGCP2
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)esv10215
Frequency
Sample Size40
Observed Gain1
Observed Loss23
Observed Complex0
Frequencyn/a


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