A curated catalogue of human genomic structural variation




Variant Details

Variant: essv54455



Internal ID11013759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196912164..196945656hg38UCSC Ensembl
Innerchr1:196881294..196914786hg19UCSC Ensembl
Innerchr1:195147917..195181409hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3833493
hg1933493
hg1833493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17551
Supporting Variants
SamplesNA19099
Known GenesCFHR2, CFHR4
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)essv54455
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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