A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15299



Internal ID11032533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228528853..228556398hg38UCSC Ensembl
Innerchr1:228716554..228744099hg19UCSC Ensembl
Innerchr1:226783177..226810722hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3827546
hg1927546
hg1827546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24714
Supporting Variantsessv73182, essv44673, essv63454, essv77801, essv81185, essv53213, essv32310
SamplesNA18508, NA12156, NA12489, NA19114, NA15510, NA06985, NA19147
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)esv15299
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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