A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10479



Internal ID11027713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2377454..2378154hg38UCSC Ensembl
Innerchr7:2417089..2417789hg19UCSC Ensembl
Innerchr7:2383615..2384315hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38701
hg19701
hg18701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26940
Supporting Variantsessv44246, essv62088, essv39108
SamplesNA12489, NA12287, NA12239
Known GenesEIF3B
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)esv10479
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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