A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10792



Internal ID11374711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131660150..131764705hg38UCSC Ensembl
Innerchr4:132581305..132685860hg19UCSC Ensembl
Innerchr4:132800755..132905310hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38104556
hg19104556
hg18104556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28086
Supporting Variantsessv43319, essv61227
SamplesNA12239, NA18909
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)esv10792
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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