A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15233



Internal ID11379152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:952214..952859hg38UCSC Ensembl
Innerchr17:855454..856099hg19UCSC Ensembl
Innerchr17:802204..802849hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38646
hg19646
hg18646
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27012
Supporting Variantsessv59676, essv37758, essv49894, essv81134, essv83389, essv76474, essv42645, essv64363, essv41233, essv69848, essv48740, essv78260, essv70595, essv39743, essv46383, essv47115, essv58940, essv73970, essv67310, essv65216, essv71788, essv54530, essv35727, essv54183, essv77019, essv32247, essv62927, essv41097
SamplesNA18861, NA18508, NA12414, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA12878, NA18907, NA07045, NA19114, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA18511
Known GenesNXN
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)esv15233
Frequency
Sample Size40
Observed Gain25
Observed Loss3
Observed Complex0
Frequencyn/a


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