A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27720



Internal ID11044953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6766074..6768005hg38UCSC Ensembl
Innerchr12:6875240..6877171hg19UCSC Ensembl
Innerchr12:6745501..6747432hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381932
hg191932
hg181932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18941
SamplesNA11995, NA19190
Known GenesPTMS
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)esv27720
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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