A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15371



Internal ID11379290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24861914..24864708hg38UCSC Ensembl
Innerchr15:25107061..25109855hg19UCSC Ensembl
Innerchr15:22658154..22660948hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg382795
hg192795
hg182795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21872
Supporting Variantsessv53415, essv59613, essv68459, essv32866, essv49672, essv34648, essv46676
SamplesNA18502, NA18508, NA18523, NA18858, NA19147, NA18517, NA19129
Known GenesSNRPN
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)esv15371
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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