A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27752



Internal ID11044985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135593357..135889456hg38UCSC Ensembl
InnerchrX:134727282..134971614hg19UCSC Ensembl
InnerchrX:134554948..134799280hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38296100
hg19244333
hg18244333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18756, esv16104, esv15368, esv13047, esv11158
SamplesNA18502, NA11931, NA19190, NA18916, NA12156, NA18907, NA07045, NA11894, NA19257, NA06985, NA18523, NA18858, NA18505, NA18511
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6
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)esv27752
Frequency
Sample Size40
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


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