A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29639



Internal ID11046872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48827524..48831068hg38UCSC Ensembl
Innerchr17:46904886..46908430hg19UCSC Ensembl
Innerchr17:44259885..44263429hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383545
hg193545
hg183545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17079
SamplesNA18861, NA18508, NA18916, NA19114, NA19257, NA18858, NA19147, NA19129
Known GenesCALCOCO2
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)esv29639
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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