A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16394



Internal ID11033628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84164667..84246195hg38UCSC Ensembl
Innerchr15:84833419..84914947hg19UCSC Ensembl
Innerchr15:82624423..82705951hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3881529
hg1981529
hg1881529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29092
Supporting Variantsessv41672, essv36252, essv68166, essv46194, essv47258, essv33543, essv71855, essv66151, essv49426, essv56541, essv82240, essv55141, essv84084, essv71014, essv38693, essv61153, essv80135
SamplesNA11995, NA18861, NA19190, NA18916, NA18907, NA19114, NA12239, NA19099, NA19257, NA19225, NA18858, NA19147, NA18517, NA19240, NA18505, NA19129, NA12776
Known GenesDNM1P41, GOLGA6L4, LOC100505679, LOC388152, LOC440300, LOC642423
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)esv16394
Frequency
Sample Size40
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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