A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23426



Internal ID11387345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:190023893..190107894hg38UCSC Ensembl
Innerchr4:190945048..191029049hg19UCSC Ensembl
Innerchr4:191182042..191263030hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3884002
hg1984002
hg1880989
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12389, esv9791, esv13038, esv12740, esv10741, esv17950
SamplesNA18502, NA11995, NA12414, NA11931, NA19190, NA12156, NA12489, NA07045, NA15510, NA19099, NA19225, NA06985, NA18909, NA18517, NA12749, NA12006, NA18511, NA12776
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG2, LOC100288255, 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)esv23426
Frequency
Sample Size40
Observed Gain7
Observed Loss12
Observed Complex0
Frequencyn/a


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