A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11224



Internal ID11375143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18904513..18911802hg38UCSC Ensembl
Innerchr3:18946005..18953294hg19UCSC Ensembl
Innerchr3:18921009..18928298hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg387290
hg197290
hg187290
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24771
Supporting Variantsessv34657, essv78875, essv64419, essv66581, essv57141, essv58463, essv68600, essv40842, essv62810
SamplesNA18502, NA12828, NA11993, NA12878, NA07045, NA15510, NA18858, NA19108, NA12749
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)esv11224
Frequency
Sample Size40
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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