A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10462



Internal ID11374381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62087447..62099063hg38UCSC Ensembl
Innerchr9:45223599..45235215hg19UCSC Ensembl
Innerchr9:45163595..45175211hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3811617
hg1911617
hg1811617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24407
Supporting Variantsessv52145, essv73185, essv44177, essv54483, essv39748
SamplesNA12287, NA12156, NA12489, NA19099, NA12006
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)esv10462
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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