A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18531



Internal ID11035765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82491429..82509613hg38UCSC Ensembl
Innerchr15:82783552..82794022hg19UCSC Ensembl
Innerchr15:80570607..80581077hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3818185
hg1910471
hg1810471
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21531
Supporting Variantsessv44823, essv69631, essv70420, essv55907, essv59853, essv37198, essv40038, essv43085
SamplesNA18916, NA12044, NA12489, NA12878, NA11894, NA18523, NA18909, NA12776
Known GenesLOC80154
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)esv18531
Frequency
Sample Size40
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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