A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20826



Internal ID11038060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1095063..1096738hg38UCSC Ensembl
Innerchr4:1088851..1090526hg19UCSC Ensembl
Innerchr4:1078851..1080526hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381676
hg191676
hg181676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24461
Supporting Variantsessv48897, essv36243, essv45642, essv70210, essv47581, essv38917, essv38047, essv44466, essv82313, essv34417, essv72434, essv59951, essv84075, essv50069, essv68060, essv32920, essv53043, essv65166, essv43814, essv59515, essv41267
SamplesNA18502, NA18861, NA18508, NA19190, NA18916, NA12287, NA12489, NA18907, NA19114, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129
Known GenesRNF212
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)esv20826
Frequency
Sample Size40
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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