A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11725



Internal ID11028959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1365188..1377193hg38UCSC Ensembl
InnerchrX:1484081..1496086hg19UCSC Ensembl
InnerchrX:1444081..1456086hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3812006
hg1912006
hg1812006
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21933
Supporting Variantsessv83961, essv68859, essv63148, essv56302, essv36919, essv61278, essv53293, essv70090, essv78317, essv43462, essv58712, essv75453, essv52233, essv80748, essv59725, essv63904
SamplesNA11995, NA18508, NA12414, NA19190, NA18916, NA07045, NA11894, NA12239, NA15510, NA06985, NA18523, NA18858, NA18909, NA19108, NA12006, NA12776
Known GenesIL3RA
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)esv11725
Frequency
Sample Size40
Observed Gain9
Observed Loss7
Observed Complex0
Frequencyn/a


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