A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16224



Internal ID11033458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8170629..8437226hg38UCSC Ensembl
Innerchr12:8323225..8589822hg19UCSC Ensembl
Innerchr12:8214492..8481089hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38266598
hg19266598
hg18266598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29886
Supporting Variantsessv34864, essv67608
SamplesNA18502, NA18858
Known GenesFAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A
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)esv16224
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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