A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23781



Internal ID11387700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129356984..129365040hg38UCSC Ensembl
Innerchr3:129075827..129083883hg19UCSC Ensembl
Innerchr3:130558517..130566573hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388057
hg198057
hg188057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20497, esv11738
SamplesNA18502, NA18861, NA18508, NA12004, NA19190, NA12489, NA18907, NA19114, NA19099, NA19257, NA19225, NA18523, NA18858, NA19108, NA18517, NA19240, NA07037, NA19129
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)esv23781
Frequency
Sample Size40
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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