A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24242



Internal ID11041475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178832418..178850380hg38UCSC Ensembl
Innerchr3:178550206..178568168hg19UCSC Ensembl
Innerchr3:180032900..180050862hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3817963
hg1917963
hg1817963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18114, esv17489, esv18827
SamplesNA12489, NA07037, NA11931, NA12828, NA18517, NA12776, NA19108, NA15510, NA18505, NA12004, NA12006, NA07045, NA12239, NA06985, NA12749, NA12156, NA12878, NA11993
Known GenesKCNMB2
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)esv24242
Frequency
Sample Size40
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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