A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16287



Internal ID11033521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8218409..8226601hg38UCSC Ensembl
Innerchr12:8371005..8379197hg19UCSC Ensembl
Innerchr12:8262272..8270464hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388193
hg198193
hg188193
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29886
Supporting Variantsessv37276, essv83216, essv64779, essv80880, essv66458, essv82284, essv78239, essv60614, essv45367, essv38968, essv45115, essv70340
SamplesNA11995, NA19190, NA18916, NA12287, NA12828, NA12489, NA07045, NA19114, NA11894, NA06985, NA18523, NA19129
Known GenesFAM90A1
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)esv16287
Frequency
Sample Size40
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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