A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20712



Internal ID11037946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21722376..21798138hg38UCSC Ensembl
Innerchr16:21733697..21809459hg19UCSC Ensembl
Innerchr16:21641198..21716960hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3875763
hg1975763
hg1875763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25717
Supporting Variantsessv52361, essv60063, essv41575, essv69721, essv50990, essv35654, essv46903, essv40194, essv83801, essv58300, essv45973, essv37875, essv54081, essv32489, essv68562, essv57193, essv66496, essv73870, essv62422, essv70255, essv42567, essv82207, essv72018, essv75452, essv48340, essv65849, essv77788, essv80651, essv54658, essv44944
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA18505, NA19129, NA12006
Known GenesOTOA, RRN3P1
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)esv20712
Frequency
Sample Size40
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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