A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21285



Internal ID11385204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39445501..39505145hg38UCSC Ensembl
Innerchr9:39433607..39505148hg19UCSC Ensembl
Innerchr9:39423607..39495148hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3859645
hg1971542
hg1871542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29308
Supporting Variantsessv32443, essv46722
SamplesNA18861, NA19147
Known GenesLOC653501, ZNF658B
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)esv21285
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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