A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16485



Internal ID11033719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13248715..13314422hg38UCSC Ensembl
Innerchr1:13354335..13420017hg19UCSC Ensembl
Innerchr1:13226922..13292604hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3865708
hg1965683
hg1865683
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25471
Supporting Variantsessv72028, essv82593, essv34560, essv38469, essv76862, essv57328, essv39213, essv50918, essv54691, essv59225, essv52170, essv78221, essv42580, essv55743, essv78622, essv66021, essv44770, essv60781, essv53011, essv67978, essv73391
SamplesNA18502, NA18508, NA11931, NA19190, NA12287, NA12156, NA11993, NA12489, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19240, NA12749, NA12006, NA18511, NA12776
Known GenesPRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)esv16485
Frequency
Sample Size40
Observed Gain20
Observed Loss1
Observed Complex0
Frequencyn/a


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