A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15711



Internal ID11379630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:67274347..67295830hg38UCSC Ensembl
Innerchr7:66739334..66760817hg19UCSC Ensembl
Innerchr7:66376769..66398252hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3821484
hg1921484
hg1821484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29559
Supporting Variantsessv37723, essv54293, essv45116, essv68461, essv60104, essv71131, essv47633, essv82232
SamplesNA18861, NA18916, NA12489, NA19114, NA19099, NA19257, NA18523, NA18858
Known GenesPMS2P4
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)esv15711
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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