A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24798



Internal ID11042031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:28534421..28535599hg38UCSC Ensembl
Innerchr7:28574039..28575217hg19UCSC Ensembl
Innerchr7:28540564..28541742hg18UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg381179
hg191179
hg181179
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14946, esv11441
SamplesNA12776, NA15510, NA19147, NA07045, NA19129, NA12878, NA11993, NA19240
Known GenesCREB5
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)esv24798
Frequency
Sample Size40
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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