A curated catalogue of human genomic structural variation




Variant Details

Variant: essv66300



Internal ID11372124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69255512..69366781hg38UCSC Ensembl
Innerchr4:70121230..70232499hg19UCSC Ensembl
Innerchr4:70155819..70267088hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38111270
hg19111270
hg18111270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12929
Supporting Variants
SamplesNA19240
Known GenesUGT2B28
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)essv66300
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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