A curated catalogue of human genomic structural variation




Variant Details

Variant: essv60600



Internal ID11005124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71241410..71360113hg38UCSC Ensembl
Innerchr5:70537237..70655940hg19UCSC Ensembl
Innerchr5:70572993..70691696hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38118704
hg19118704
hg18118704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11712
Supporting Variants
SamplesNA18523
Known GenesGUSBP9
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)essv60600
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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