A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29452



Internal ID11393371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32706511..32811903hg38UCSC Ensembl
Innerchr7:32746123..32851515hg19UCSC Ensembl
Innerchr7:32712648..32818040hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38105393
hg19105393
hg18105393
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18054, esv10331
SamplesNA12287, NA07045, NA12239, NA15510, NA12749, NA18511
Known GenesDPY19L1P1, LINC00997, MIR550A2, MIR550B2, ZNRF2P1
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)esv29452
Frequency
Sample Size40
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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