A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27849



Internal ID11391768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:62462717..62698738hg38UCSC Ensembl
InnerchrX:61682187..61918208hg19UCSC Ensembl
InnerchrX:61598912..61834933hg18UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38236022
hg19236022
hg18236022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19233, esv19766, esv15947
SamplesNA12414, NA18916, NA12828, NA07045, NA19114, NA11894, NA15510, NA07037, 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)esv27849
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer