A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17710



Internal ID11034944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:88921237..88924198hg38UCSC Ensembl
Innerchr15:89464468..89467429hg19UCSC Ensembl
Innerchr15:87265472..87268433hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg382962
hg192962
hg182962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25206
Supporting Variantsessv55403, essv82975
SamplesNA19190, NA19099
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)esv17710
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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