A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21335



Internal ID11038569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133526364..133777719hg38UCSC Ensembl
Innerchr10:135339868..135515044hg19UCSC Ensembl
Innerchr10:135189858..135365034hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38251356
hg19175177
hg18175177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28562
Supporting Variantsessv72683
SamplesNA19225
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SPRNP1, SYCE1
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)esv21335
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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