A curated catalogue of human genomic structural variation




Variant Details

Variant: essv50662



Internal ID10981016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133740660..133765676hg38UCSC Ensembl
Innerchr10:135477985..135503001hg19UCSC Ensembl
Innerchr10:135327975..135352991hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3825017
hg1925017
hg1825017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv10825
Supporting Variants
SamplesNA11931
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, 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)essv50662
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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