A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19676



Internal ID11383595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:1532059..1537056hg38UCSC Ensembl
Innerchr6:1532294..1537291hg19UCSC Ensembl
Innerchr6:1477293..1482290hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg384998
hg194998
hg184998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22569
Supporting Variantsessv82589, essv72502, essv75645, essv65029, essv55636, essv53170, essv62405
SamplesNA18508, NA12414, NA19190, NA15510, NA19099, NA19225, NA19240
Known Genes
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)esv19676
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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