A curated catalogue of human genomic structural variation




Variant Details

Variant: essv52269



Internal ID11331449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:190064011..190092891hg38UCSC Ensembl
Innerchr4:190985166..191014046hg19UCSC Ensembl
Innerchr4:191222160..191248027hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3828881
hg1928881
hg1825868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv13038
Supporting Variants
SamplesNA12006
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, LOC100653046
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)essv52269
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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