A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23469



Internal ID11387388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158146767..158151769hg38UCSC Ensembl
Innerchr7:157939459..157944461hg19UCSC Ensembl
Innerchr7:157632220..157637222hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385003
hg195003
hg185003
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14674, esv10505
SamplesNA18861, NA11993, NA11894, NA19257, NA19225, NA19108, NA12749, NA18505
Known GenesPTPRN2
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)esv23469
Frequency
Sample Size40
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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