A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27162



Internal ID11044395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133060920..133202839hg38UCSC Ensembl
Innerchr12:133637506..133779425hg19UCSC Ensembl
Innerchr12:132147579..132289498hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38141920
hg19141920
hg18141920
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20068, esv13550
SamplesNA18523, NA19240
Known GenesZNF10, ZNF140, ZNF268, ZNF84, ZNF891
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)esv27162
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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