A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15775



Internal ID11379694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23975025..23996456hg38UCSC Ensembl
Innerchr20:23955662..23977093hg19UCSC Ensembl
Innerchr20:23903662..23925093hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3821432
hg1921432
hg1821432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26651
Supporting Variantsessv46538, essv74334, essv68317, essv55447, essv77676, essv83966, essv81769, essv33119
SamplesNA12004, NA19190, NA19114, NA19099, NA06985, NA18858, NA19147, NA19129
Known GenesGGTLC1
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)esv15775
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer