A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29239



Internal ID4360140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11873552..11874080hg38UCSC Ensembl
Innerchr12:12026486..12027014hg19UCSC Ensembl
Innerchr12:11917753..11918281hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38529
hg19529
hg18529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15967
SamplesNA18523, NA15510, NA19147, NA12414, NA18858, NA19099, NA19225, NA19240
Known GenesETV6, RNU6-19P
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)esv29239
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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