A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29009



Internal ID11046242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116088674..116090675hg38UCSC Ensembl
Innerchr12:116526479..116528480hg19UCSC Ensembl
Innerchr12:115010862..115012863hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg382002
hg192002
hg182002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11571
SamplesNA11931
Known GenesMED13L
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)esv29009
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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