A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12170



Internal ID11029404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70774573..70778913hg38UCSC Ensembl
Innerchr5:70070400..70074740hg19UCSC Ensembl
Innerchr5:70106156..70110496hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384341
hg194341
hg184341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22113
Supporting Variantsessv63808, essv76620
SamplesNA07045, NA18511
Known GenesGUSBP9, SMA4
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)esv12170
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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