A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16346



Internal ID11380265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22358283..22365075hg38UCSC Ensembl
Innerchr15:23508021..23514813hg19UCSC Ensembl
Innerchr15:21059462..21066254hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg386793
hg196793
hg186793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28050
Supporting Variantsessv58308, essv40752
SamplesNA12878, NA19108
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)esv16346
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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