A curated catalogue of human genomic structural variation




Variant Details

Variant: essv57721



Internal ID10981883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146670446..146674571hg38UCSC Ensembl
Innerchr7:146367538..146371663hg19UCSC Ensembl
Innerchr7:145998471..146002596hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384126
hg194126
hg184126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv18454
Supporting Variants
SamplesNA11993
Known GenesCNTNAP2
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)essv57721
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer