A curated catalogue of human genomic structural variation




Variant Details

Variant: essv63874



Internal ID11325230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45575598..45578663hg38UCSC Ensembl
Innerchr20:44204237..44207302hg19UCSC Ensembl
Innerchr20:43637651..43640716hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383066
hg193066
hg183066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19442
Supporting Variants
SamplesNA07045
Known GenesWFDC8
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)essv63874
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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