A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13216



Internal ID11377135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159042976..159050041hg38UCSC Ensembl
Innerchr1:159012766..159019831hg19UCSC Ensembl
Innerchr1:157279390..157286455hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg387066
hg197066
hg187066
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21466
Supporting Variantsessv61110, essv40622, essv44953
SamplesNA12489, NA12878, NA12239
Known GenesIFI16
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)esv13216
Frequency
Sample Size40
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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