A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10825



Internal ID11028059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133645377..133766317hg38UCSC Ensembl
Innerchr10:135458881..135503642hg19UCSC Ensembl
Innerchr10:135308871..135353632hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38120941
hg1944762
hg1844762
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28562
Supporting Variantsessv69416, essv48910, essv74206, essv50662, essv33829, essv80737
SamplesNA18502, NA11995, NA11931, NA12156, NA12044, NA07037
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)esv10825
Frequency
Sample Size40
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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