A curated catalogue of human genomic structural variation




Variant Details

Variant: essv40386



Internal ID10996498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757651..765599hg38UCSC Ensembl
Innerchr12:866817..874765hg19UCSC Ensembl
Innerchr12:737078..745026hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387949
hg197949
hg187949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18415
Supporting Variants
SamplesNA12878
Known GenesWNK1
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)essv40386
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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