A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28263



Internal ID11045496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45811047..45817105hg38UCSC Ensembl
Innerchr7:45850646..45856704hg19UCSC Ensembl
Innerchr7:45817171..45823229hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg386059
hg196059
hg186059
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20777, esv14221
SamplesNA11995, NA11931, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA07045, NA06985, NA18909, NA07037, NA12776
Known Genes
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)esv28263
Frequency
Sample Size40
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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