A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26589



Internal ID11043822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122693559..122726124hg38UCSC Ensembl
Innerchr12:123178106..123210671hg19UCSC Ensembl
Innerchr12:121744059..121776624hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3832566
hg1932566
hg1832566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13329, esv10672
SamplesNA19257, NA12287, NA11894, NA18916
Known GenesHCAR2, HCAR3
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)esv26589
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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