A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13930



Internal ID11031164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10627593..10651739hg38UCSC Ensembl
Innerchr21:10860718..10884864hg19UCSC Ensembl
Innerchr21:9882589..9906735hg18UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3824147
hg1924147
hg1824147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28756
Supporting Variantsessv82560, essv78464, essv36158, essv52962, essv69562, essv65794, essv64329, essv44392
SamplesNA18508, NA19190, NA12044, NA12489, NA18907, NA07045, NA06985, NA19240
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)esv13930
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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