A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12597



Internal ID11376516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:26067461..26141672hg38UCSC Ensembl
Innerchr20:26048097..26122308hg19UCSC Ensembl
Innerchr20:25996097..26070308hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3874212
hg1974212
hg1874212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25843
Supporting Variantsessv67869, essv37835, essv46991, essv62989, essv74496, essv61968, essv55873
SamplesNA18861, NA12004, NA12239, NA15510, NA19257, NA18858, NA12776
Known GenesFAM182A, NCOR1P1
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)esv12597
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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