A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16521



Internal ID11033755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:170833..172008hg38UCSC Ensembl
Innerchr17:20624..21799hg19UCSC Ensembl
Innerchr17:20624..21799hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381176
hg191176
hg181176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27164
Supporting Variantsessv61010, essv83056, essv52692, essv73177, essv48712, essv60064, essv63017, essv49988, essv79756, essv36046, essv68256, essv53531, essv71995, essv38385, essv64634, essv55897, essv43550
SamplesNA18508, NA19190, NA12156, NA18907, NA07045, NA12239, NA15510, NA19257, NA19225, NA18523, NA18858, NA18909, NA18517, NA07037, NA12749, NA12006, NA12776
Known GenesDOC2B
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)esv16521
Frequency
Sample Size40
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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