A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16309



Internal ID11380228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22540587..22700869hg38UCSC Ensembl
Innerchr16:22551908..22712190hg19UCSC Ensembl
Innerchr16:22459409..22619691hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38160283
hg19160283
hg18160283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25819
Supporting Variantsessv46760, essv40357, essv43155, essv67382, essv73772, essv48136, essv37854, essv81952, essv54539, essv45276, essv75900, essv82903, essv45025, essv69926, essv68273, essv72720, essv58949, essv80260, essv78251, essv52700, essv60648, essv33550, essv35685, essv66131, essv57514, essv51554, essv70555, essv53937
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA19129, NA12006
Known GenesLOC653786
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)esv16309
Frequency
Sample Size40
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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