A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27232



Internal ID11391151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194894334..195018104hg38UCSC Ensembl
Innerchr3:194615063..194738833hg19UCSC Ensembl
Innerchr3:196096352..196220122hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38123771
hg19123771
hg18123771
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18029, esv11739
SamplesNA18909, 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)esv27232
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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