A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15082



Internal ID11379001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38483594..38529694hg38UCSC Ensembl
Innerchr10:38772522..38818622hg19UCSC Ensembl
Innerchr10:38812528..38858628hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3846101
hg1946101
hg1846101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29065
Supporting Variantsessv69470, essv41556, essv39487, essv78048, essv51719, essv83703, essv56498, essv71070, essv65301, essv73315, essv37096, essv46253, essv59912, essv54511, essv35754, essv32254, essv75287, essv61156, essv39982, essv46849, essv66996, essv48360, essv79084, essv80945, essv71631
SamplesNA11995, NA18861, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA12878, NA18907, NA11894, NA12239, NA19099, NA19225, NA06985, NA18523, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
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)esv15082
Frequency
Sample Size40
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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