A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26291



Internal ID11390210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30148372..30395989hg38UCSC Ensembl
Innerchr15:30440575..30688192hg19UCSC Ensembl
Innerchr15:28227867..28475484hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38247618
hg19247618
hg18247618
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14925, esv16684, esv11875
SamplesNA12156, NA12828, NA12878, NA07045, NA18523, NA18909, NA12749
Known GenesCHRFAM7A, DKFZP434L187
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)esv26291
Frequency
Sample Size40
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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