A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23161



Internal ID11387080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149001596..149076864hg38UCSC Ensembl
Innerchr1:144810749..144882876hg19UCSC Ensembl
Innerchr1:143522106..143594233hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3875269
hg1972128
hg1872128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12088, esv21270, esv18675, esv11204, esv13384, esv17398
SamplesNA18916, NA12489, NA18907, NA07045, NA19114, NA15510, NA19099, NA06985, NA18523, NA18909, NA12776
Known GenesLOC100288142, NBPF12, NBPF8, NBPF9, PDE4DIP
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)esv23161
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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