A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18715



Internal ID11382634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33080583..33086963hg38UCSC Ensembl
Innerchr6:33048360..33054740hg19UCSC Ensembl
Innerchr6:33156338..33162718hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386381
hg196381
hg186381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22467
Supporting Variantsessv66905, essv50424, essv67514, essv81911, essv54034, essv62648, essv48546, essv47513, essv46242, essv33701, essv79726, essv83002, essv35499, essv60864
SamplesNA18861, NA18508, NA19190, NA12828, NA18907, NA19114, NA15510, NA18523, NA18858, NA19147, NA18517, NA07037, NA12749, NA19129
Known GenesHLA-DPA1, HLA-DPB1
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)esv18715
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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