A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27243



Internal ID11044476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146669480..146674665hg38UCSC Ensembl
Innerchr7:146366572..146371757hg19UCSC Ensembl
Innerchr7:145997505..146002690hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385186
hg195186
hg185186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18454
SamplesNA19099, NA11993
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)esv27243
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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