A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9736



Internal ID11047175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1464117..1464852hg38UCSC Ensembl
Innerchr10:1506312..1507047hg19UCSC Ensembl
Innerchr10:1496312..1497047hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38736
hg19736
hg18736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22628
Supporting Variantsessv45862, essv61974
SamplesNA12239, NA19129
Known GenesADARB2
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)esv9736
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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