A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13284



Internal ID11377203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1021989..1026590hg38UCSC Ensembl
Innerchr5:1022104..1026705hg19UCSC Ensembl
Innerchr5:1075104..1079705hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384602
hg194602
hg184602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27512
Supporting Variantsessv83238, essv38278, essv58095, essv68860, essv50636, essv55769, essv61571, essv54569, essv44356, essv73877, essv80095, essv39466, essv47425, essv66495, essv72973, essv70687, essv53032, essv75431, essv35401, essv50860, essv48729, essv43705, essv42343, essv81104, essv52554
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12156, NA12828, NA12489, NA18907, NA19114, NA12239, NA19099, NA19257, NA19225, NA18858, NA18909, NA19108, NA18517, NA07037, NA18505, NA12006, NA12776
Known GenesNKD2
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)esv13284
Frequency
Sample Size40
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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