A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18415



Internal ID11035649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757566..765832hg38UCSC Ensembl
Innerchr12:866732..874998hg19UCSC Ensembl
Innerchr12:736993..745259hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388267
hg198267
hg188267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24614
Supporting Variantsessv61720, essv58960, essv40386, essv44811, essv64604, essv45875, essv73467, essv76551, essv83292, essv59882, essv54796, essv76402, essv48675, essv67833, essv66957, essv77790, essv33208, essv62582, essv74804, essv81891, essv52323, essv72288, essv71354, essv64969, essv46922, essv51183, essv79370, essv56823, essv50347, essv41354, essv39397, essv34650, essv53060, essv43242
SamplesNA18502, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12828, NA12489, NA12878, NA07045, NA19114, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesWNK1
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)esv18415
Frequency
Sample Size40
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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