A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84034



Internal ID11369053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55166579..55167639hg38UCSC Ensembl
Innerchr7:55234272..55235332hg19UCSC Ensembl
Innerchr7:55201766..55202826hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381061
hg191061
hg181061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv16758
Supporting Variants
SamplesNA19190
Known GenesEGFR
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)essv84034
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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