A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17551



Internal ID11381470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196910924..196950140hg38UCSC Ensembl
Innerchr1:196880054..196919270hg19UCSC Ensembl
Innerchr1:195146677..195185893hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3839217
hg1939217
hg1839217
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26552
Supporting Variantsessv50704, essv77764, essv56083, essv62861, essv44889, essv34466, essv75396, essv37402, essv54455, essv70717, essv57971, essv61678, essv33496, essv66198, essv75108, essv56874, essv40173, essv81828, essv47180
SamplesNA18502, NA18861, NA12414, NA11931, NA12004, NA18916, NA11993, NA12489, NA12878, NA19114, NA11894, NA12239, NA15510, NA19099, NA06985, NA19108, NA19147, NA19240, NA12776
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)esv17551
Frequency
Sample Size40
Observed Gain12
Observed Loss7
Observed Complex0
Frequencyn/a


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