A curated catalogue of human genomic structural variation




Variant Details

Variant: essv83502



Internal ID11368521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130410567..130420580hg38UCSC Ensembl
Innerchr2:131168140..131178153hg19UCSC Ensembl
Innerchr2:130884610..130894623hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3810014
hg1910014
hg1810014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11686
Supporting Variants
SamplesNA19190
Known GenesFAR2P2
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)essv83502
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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