A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12071



Internal ID11375990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77010536..77068366hg38UCSC Ensembl
Innerchr7:76639853..76697683hg19UCSC Ensembl
Innerchr7:76477789..76535619hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3857831
hg1957831
hg1857831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23975
Supporting Variantsessv45643, essv46766, essv54551, essv40919, essv83657, essv58647, essv75930, essv64900, essv72945, essv41831, essv32729, essv35898, essv68301, essv56120, essv82038, essv53229, essv38690, essv60645
SamplesNA18861, NA18508, NA12414, NA19190, NA12878, NA18907, NA19114, NA19099, NA19257, NA19225, NA18523, NA18858, NA19108, NA19147, NA19240, NA18505, NA19129, NA12776
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832
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)esv12071
Frequency
Sample Size40
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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