A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19753



Internal ID11383672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:677951..850826hg38UCSC Ensembl
Innerchr5:678066..850941hg19UCSC Ensembl
Innerchr5:731066..903941hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38172876
hg19172876
hg18172876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24225
Supporting Variantsessv53323, essv78831, essv71435, essv76905, essv83496, essv41929, essv58469, essv37284, essv81215, essv75719, essv66808, essv72609, essv64257, essv45772, essv65002, essv43240, essv63227, essv47930, essv36401, essv54545, essv38351, essv32675
SamplesNA18861, NA18508, NA12414, NA19190, NA18916, NA12828, NA18907, NA07045, NA19114, NA11894, NA15510, NA19099, NA19257, NA19225, NA18909, NA19108, NA19147, NA19240, NA12749, NA18505, NA19129, NA18511
Known GenesTPPP, ZDHHC11
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)esv19753
Frequency
Sample Size40
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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