A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29907



Internal ID11047140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136332..2148815hg38UCSC Ensembl
Innerchr12:2245498..2257981hg19UCSC Ensembl
Innerchr12:2115759..2128242hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812484
hg1912484
hg1812484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15417
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19108, NA15510, NA18505, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesCACNA1C
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)esv29907
Frequency
Sample Size40
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer