A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13375



Internal ID11377294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:127690348..127755192hg38UCSC Ensembl
Innerchr10:129488612..129553456hg19UCSC Ensembl
Innerchr10:129378602..129443446hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3864845
hg1964845
hg1864845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24992
Supporting Variantsessv68986, essv59266, essv41098, essv83551, essv36917, essv61294
SamplesNA19190, NA12878, NA11894, NA12239, NA18858, NA19108
Known GenesFOXI2
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)esv13375
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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