A curated catalogue of human genomic structural variation




Variant Details

Variant: essv67483



Internal ID11342347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:30788442..30807088hg38UCSC Ensembl
InnerchrX:30806559..30825205hg19UCSC Ensembl
InnerchrX:30716480..30735126hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3818647
hg1918647
hg1818647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18051
Supporting Variants
SamplesNA12828
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)essv67483
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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