A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22430



Internal ID11039663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147497418..147498062hg38UCSC Ensembl
Innerchr7:147194510..147195154hg19UCSC Ensembl
Innerchr7:146825443..146826087hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38645
hg19645
hg18645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15215
SamplesNA12044
Known GenesCNTNAP2, MIR548I4
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)esv22430
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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