A curated catalogue of human genomic structural variation




Variant Details

Variant: essv38855



Internal ID11373774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65073707..65121296hg38UCSC Ensembl
Innerchr7:64534085..64581674hg19UCSC Ensembl
Innerchr7:64171520..64219109hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3847590
hg1947590
hg1847590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18831
Supporting Variants
SamplesNA19257
Known GenesCCT6P3
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)essv38855
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