A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10086



Internal ID11027320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:238115..251040hg38UCSC Ensembl
InnerchrX:154782..167707hg19UCSC Ensembl
InnerchrX:94782..107707hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3812926
hg1912926
hg1812926
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27600
Supporting Variantsessv71016, essv72640, essv70047, essv68224, essv79233, essv56831, essv82424, essv75602, essv63149, essv46292, essv82779, essv67431, essv74744, essv73479, essv48963, essv32803, essv65019, essv55471
SamplesNA12414, NA12004, NA19190, NA18916, NA12156, NA12044, NA12828, NA19114, NA15510, NA19099, NA19225, NA18858, NA19147, NA19240, NA07037, NA12749, NA19129, NA12776
Known Genes
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)esv10086
Frequency
Sample Size40
Observed Gain6
Observed Loss12
Observed Complex0
Frequencyn/a


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