A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26940



Internal ID11044173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2377454..2378764hg38UCSC Ensembl
Innerchr7:2417089..2418399hg19UCSC Ensembl
Innerchr7:2383615..2384925hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg381311
hg191311
hg181311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10479, esv16893
SamplesNA12489, NA07037, NA11931, NA12287, NA12239, NA06985
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)esv26940
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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