A curated catalogue of human genomic structural variation




Variant Details

Variant: essv60626



Internal ID11005150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12399186..12412138hg38UCSC Ensembl
Innerchr8:12256695..12269647hg19UCSC Ensembl
Innerchr8:12301066..12314018hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812953
hg1912953
hg1812953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17812
Supporting Variants
SamplesNA18523
Known GenesDEFB109P1, FAM66A
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)essv60626
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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