A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11362



Internal ID11028596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:270842..274967hg38UCSC Ensembl
InnerchrX:187509..191634hg19UCSC Ensembl
InnerchrX:127509..131634hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg384126
hg194126
hg184126
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27600
Supporting Variantsessv71060, essv45437, essv73473, essv80054, essv34554, essv58637, essv32451
SamplesNA18502, NA11995, NA18916, NA12156, NA19108, NA19147, NA19129
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)esv11362
Frequency
Sample Size40
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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