A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16674



Internal ID11380593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18401889..18402650hg38UCSC Ensembl
Innerchr6:18402120..18402881hg19UCSC Ensembl
Innerchr6:18510099..18510860hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38762
hg19762
hg18762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21847
Supporting Variantsessv68195, essv46270, essv78034, essv38910, essv55676, essv51357, essv67008, essv47554, essv45028, essv52680, essv77148, essv35394, essv69963, essv70908, essv34075, essv50138, essv48869, essv54194, essv74300, essv38396, essv76391, essv73021, essv41128, essv62567, essv81243, essv64647, essv61158, essv82733, essv79462, essv37515
SamplesNA18502, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA12828, NA12489, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18858, NA18517, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511
Known GenesRNF144B
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)esv16674
Frequency
Sample Size40
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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