A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24848



Internal ID11042081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45574204..45574919hg38UCSC Ensembl
Innerchr7:45613803..45614518hg19UCSC Ensembl
Innerchr7:45580328..45581043hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38716
hg19716
hg18716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13220
SamplesNA07045
Known GenesADCY1
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)esv24848
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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