A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18051



Internal ID11381970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:30788442..30807724hg38UCSC Ensembl
InnerchrX:30806559..30825841hg19UCSC Ensembl
InnerchrX:30716480..30735762hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3819283
hg1919283
hg1819283
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24200
Supporting Variantsessv46618, essv67483, essv78300, essv44383, essv61477, essv39024, essv69862
SamplesNA12287, NA12044, NA12828, NA12489, NA12239, NA06985, 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)esv18051
Frequency
Sample Size40
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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