A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14847



Internal ID11378766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84517365..84545815hg38UCSC Ensembl
Innerchr15:85060596..85089046hg19UCSC Ensembl
Innerchr15:82861600..82890050hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3828451
hg1928451
hg1828451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29772
Supporting Variantsessv56173, essv50843, essv80279, essv76555, essv79508, essv48671, essv47427, essv76062, essv50530, essv68599, essv64576, essv75291, essv72131, essv66765, essv60540, essv35425, essv82992, essv55504, essv45655
SamplesNA11995, NA18861, NA12414, NA11931, NA12004, NA19190, NA12828, NA18907, NA07045, NA19099, NA19225, NA18523, NA18858, NA18517, NA07037, NA12749, NA19129, NA18511, NA12776
Known GenesUBE2Q2P1
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)esv14847
Frequency
Sample Size40
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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