A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22437



Internal ID11039670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89010736..89012843hg38UCSC Ensembl
Innerchr1:89476419..89478526hg19UCSC Ensembl
Innerchr1:89249007..89251114hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382108
hg192108
hg182108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15180
SamplesNA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesGBP3
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)esv22437
Frequency
Sample Size40
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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