A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19684



Internal ID11383603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7545791..7587110hg38UCSC Ensembl
Innerchr8:7403313..7444632hg19UCSC Ensembl
Innerchr8:7390723..7432042hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3841320
hg1941320
hg1841320
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21583
Supporting Variantsessv44069, essv79568, essv40445, essv60150, essv71533, essv78457, essv62491, essv53097, essv69892, essv39665
SamplesNA18508, NA18916, NA12287, NA12044, NA12489, NA12878, NA15510, NA06985, NA18523, NA12749
Known GenesFAM90A7P
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)esv19684
Frequency
Sample Size40
Observed Gain5
Observed Loss5
Observed Complex0
Frequencyn/a


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