A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20713



Internal ID11037947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130344436..130388530hg38UCSC Ensembl
Innerchr7:129984276..130028371hg19UCSC Ensembl
Innerchr7:129771512..129815607hg18UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3844095
hg1944096
hg1844096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23964
Supporting Variantsessv64676, essv76624
SamplesNA07045, NA18511
Known GenesCPA1, CPA5
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)esv20713
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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