A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12059



Internal ID11375978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:123266401..123268101hg38UCSC Ensembl
Innerchr9:126028680..126030380hg19UCSC Ensembl
Innerchr9:125068501..125070201hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381701
hg191701
hg181701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25223
Supporting Variantsessv52439, essv76199
SamplesNA12414, NA12006
Known GenesSTRBP
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)esv12059
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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