A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25775



Internal ID11043008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205407368..205806595hg38UCSC Ensembl
Innerchr2:206272092..206671319hg19UCSC Ensembl
Innerchr2:205980337..206379564hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38399228
hg19399228
hg18399228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10162, esv19770
SamplesNA18861, NA19190, NA12287, NA12156, NA11993, NA19225, NA06985, NA12749
Known GenesNRP2, PARD3B
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)esv25775
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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