A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20737



Internal ID11037971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101038965..101040048hg38UCSC Ensembl
Innerchr4:101960122..101961205hg19UCSC Ensembl
Innerchr4:102179145..102180228hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381084
hg191084
hg181084
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29822
Supporting Variantsessv57124, essv81064, essv77135, essv62467, essv71618, essv74860, essv47715, essv77505, essv79576, essv35650, essv54720, essv36654, essv60305, essv81188, essv63803, essv39399, essv83494, essv59154, essv53086, essv33134, essv44999
SamplesNA12489, NA18861, NA18523, NA19114, NA18511, NA19108, NA15510, NA12287, NA19147, NA18508, NA12004, NA11894, NA11995, NA19190, NA07045, NA06985, NA18907, NA12749, NA19099, NA19225, NA11993
Known GenesPPP3CA
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)esv20737
Frequency
Sample Size40
Observed Gain20
Observed Loss1
Observed Complex0
Frequencyn/a


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