A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14385



Internal ID11378304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62507026..62517758hg38UCSC Ensembl
Innerchr7:61967404..61978136hg19UCSC Ensembl
Innerchr7:61604839..61615571hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3810733
hg1910733
hg1810733
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24740
Supporting Variantsessv75655, essv33040, essv46006
SamplesNA12414, NA19147, NA19129
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)esv14385
Frequency
Sample Size40
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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