A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23664



Internal ID11387583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25750412..25868428hg38UCSC Ensembl
Innerchr20:25731048..25849064hg19UCSC Ensembl
Innerchr20:25679048..25797064hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38118017
hg19118017
hg18118017
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13180, esv18917, esv12685, esv10664
SamplesNA18861, NA12004, NA19190, NA11993, NA18907, NA07045, NA19099, NA18858, NA19108, NA19147, NA19240, NA18505, NA18511
Known GenesFAM182B
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)esv23664
Frequency
Sample Size40
Observed Gain5
Observed Loss9
Observed Complex0
Frequencyn/a


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