A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28328



Internal ID11392247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69152177..69428553hg38UCSC Ensembl
Innerchr4:70017895..70294271hg19UCSC Ensembl
Innerchr4:70052484..70328860hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38276377
hg19276377
hg18276377
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19678, esv18774, esv13389, esv12929
SamplesNA18861, NA18508, NA12414, NA12004, NA18916, NA12156, NA11993, NA18907, NA07045, NA11894, NA15510, NA19099, NA19257, NA19225, NA18858, NA19147, NA18517, NA19240, NA07037, NA19129, NA12006, NA18511, NA12776
Known GenesUGT2B11, UGT2B28
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)esv28328
Frequency
Sample Size40
Observed Gain17
Observed Loss6
Observed Complex0
Frequencyn/a


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