A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18196



Internal ID11035430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75672547..75745644hg38UCSC Ensembl
Innerchr3:75721698..75794795hg19UCSC Ensembl
Innerchr3:75804388..75877485hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3873098
hg1973098
hg1873098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26581
Supporting Variantsessv62447
SamplesNA15510
Known GenesLINC00960, MIR4273, ZNF717
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)esv18196
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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