A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29021



Internal ID11046254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25049382..25089289hg38UCSC Ensembl
Innerchr15:25294529..25334436hg19UCSC Ensembl
Innerchr15:22845622..22885529hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3839908
hg1939908
hg1839908
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15127, esv18014
SamplesNA11995, NA11993, NA11894, NA07037
Known GenesSNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9
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)esv29021
Frequency
Sample Size40
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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