A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27735



Internal ID11391654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205034047..205265497hg38UCSC Ensembl
Innerchr2:205898770..206130221hg19UCSC Ensembl
Innerchr2:205607015..205838466hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38231451
hg19231452
hg18231452
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10666, esv16739, esv16797
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA18916, NA12287, NA12156, NA12044, NA12828, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12006, NA18511, NA12776
Known GenesPARD3B
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)esv27735
Frequency
Sample Size40
Observed Gain31
Observed Loss1
Observed Complex0
Frequencyn/a


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