A curated catalogue of human genomic structural variation




Variant Details

Variant: essv39733



Internal ID11335958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67068565..67216003hg38UCSC Ensembl
Innerchr9:40476838..40624276hg19UCSC Ensembl
Innerchr9:40466838..40614276hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg38147439
hg19147439
hg18147439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12705
Supporting Variants
SamplesNA12287
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)essv39733
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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