A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28616



Internal ID11045849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127860289..127884215hg38UCSC Ensembl
Innerchr9:130622568..130646494hg19UCSC Ensembl
Innerchr9:129662389..129686315hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3823927
hg1923927
hg1823927
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20772, esv20057
SamplesNA19114, NA12414
Known GenesAK1, MIR4672
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)esv28616
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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