A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16943



Internal ID11034177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63633009..63759744hg38UCSC Ensembl
Innerchr9:68228743..68355478hg19UCSC Ensembl
Innerchr9:67718563..67845298hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38126736
hg19126736
hg18126736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25366
Supporting Variantsessv45736, essv60108
SamplesNA18523, NA19129
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)esv16943
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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