A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17755



Internal ID11381674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101708956..101713345hg38UCSC Ensembl
Innerchr12:102102734..102107123hg19UCSC Ensembl
Innerchr12:100626865..100631254hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384390
hg194390
hg184390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21962
Supporting Variantsessv44581, essv57217, essv49350, essv50702, essv63171, essv41064
SamplesNA11931, NA11993, NA12489, NA12878, NA15510, NA18517
Known GenesCHPT1
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)esv17755
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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