A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12323



Internal ID11029557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57202234..57286915hg38UCSC Ensembl
Innerchr8:58114793..58199474hg19UCSC Ensembl
Innerchr8:58277347..58362028hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3884682
hg1984682
hg1884682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25719
Supporting Variantsessv77751, essv34284, essv55413, essv64110, essv81901, essv48175, essv38220, essv61312, essv49313, essv55753, essv35635
SamplesNA18502, NA18907, NA07045, NA19114, NA12239, NA19099, NA19257, NA06985, NA18517, NA07037, NA12776
Known GenesLINC00588, LOC100507651, LOC286177
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)esv12323
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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