A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10475



Internal ID11374394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198117971..198123332hg38UCSC Ensembl
Innerchr3:197844842..197850203hg19UCSC Ensembl
Innerchr3:199329239..199334600hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385362
hg195362
hg185362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26652
Supporting Variantsessv59202, essv35590, essv59802
SamplesNA18907, NA18523, NA19108
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)esv10475
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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