A curated catalogue of human genomic structural variation




Variant Details

Variant: essv32464



Internal ID11367654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12038835..12177453hg38UCSC Ensembl
Innerchr8:11896344..12034962hg19UCSC Ensembl
Innerchr8:11933753..12072371hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38138619
hg19138619
hg18138619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv15075
Supporting Variants
SamplesNA19147
Known GenesDEFB130, FAM66D, FAM90A2P, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
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)essv32464
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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