A curated catalogue of human genomic structural variation




Variant Details

Variant: essv71805



Internal ID11023176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:73946527..73949400hg38UCSC Ensembl
InnerchrX:73166362..73169235hg19UCSC Ensembl
InnerchrX:73083087..73085960hg18UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg382874
hg192874
hg182874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18254
Supporting Variants
SamplesNA19225
Known GenesJPX
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)essv71805
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