A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28583



Internal ID11045816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67705882..67790581hg38UCSC Ensembl
Innerchr9:46371325..46461011hg19UCSC Ensembl
Innerchr9:46261321..46351007hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3884700
hg1989687
hg1889687
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18570, esv15515, esv20333, esv16991, esv10996
SamplesNA12489, NA19114, NA12828, NA18517, NA12776, NA19108, NA15510, NA19147, NA18508, NA19190, NA07045, NA18909, NA19099, NA12878, NA19225, NA11993
Known GenesFAM27E1
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)esv28583
Frequency
Sample Size40
Observed Gain16
Observed Loss1
Observed Complex0
Frequencyn/a


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