A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28731



Internal ID11045964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171046945..171757821hg38UCSC Ensembl
Innerchr1:171016086..171726961hg19UCSC Ensembl
Innerchr1:169282710..169993584hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38710877
hg19710876
hg18710875
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10193, esv14617, esv13592, esv12447
SamplesNA19114, NA18916, NA07045, NA12156
Known GenesFMO1, FMO2, FMO3, FMO4, FMO6P, MIR1295A, MIR1295B, MIR6801, MROH9, MYOC, PRRC2C, TOP1P1, VAMP4
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)esv28731
Frequency
Sample Size40
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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