A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18972



Internal ID11036206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57923657..57942896hg38UCSC Ensembl
Innerchr6:58249935..58269174hg19UCSC Ensembl
Innerchr6:58357894..58377133hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3819240
hg1919240
hg1819240
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22645
Supporting Variantsessv78006, essv51058, essv69924, essv74348, essv53347, essv40310, essv41443
SamplesNA18508, NA11931, NA12004, NA12044, NA12878, NA06985, NA18505
Known GenesGUSBP4
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)esv18972
Frequency
Sample Size40
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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