A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16340



Internal ID11033574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62249784..62332974hg38UCSC Ensembl
Innerchr9:46561085..46644275hg19UCSC Ensembl
Innerchr9:46401081..46484271hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3883191
hg1983191
hg1883191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23745
Supporting Variantsessv57636, essv46077
SamplesNA11993, 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)esv16340
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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