A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16165



Internal ID11033399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75515720..75566163hg38UCSC Ensembl
Innerchr3:75564871..75615314hg19UCSC Ensembl
Innerchr3:75647561..75698004hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3850444
hg1950444
hg1850444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26581
Supporting Variantsessv49901, essv43583, essv51546, essv59278, essv41645, essv64819, essv32693
SamplesNA11931, NA07045, NA18909, NA19108, NA19147, NA18517, NA18505
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)esv16165
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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