A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26552



Internal ID11043785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741188..196950140hg38UCSC Ensembl
Innerchr1:196710318..196919270hg19UCSC Ensembl
Innerchr1:194976941..195185893hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38208953
hg19208953
hg18208953
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19830, esv12084, esv17256, esv17551, esv20484
SamplesNA18502, NA11995, NA18861, NA12414, NA11931, NA12004, NA18916, NA12287, NA11993, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA06985, NA19108, NA19147, NA18517, NA19240, NA18505, NA18511, NA12776
Known GenesCFH, CFHR1, CFHR2, CFHR3, 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)esv26552
Frequency
Sample Size40
Observed Gain15
Observed Loss11
Observed Complex0
Frequencyn/a


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