A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18156



Internal ID11035390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1256475..1257259hg38UCSC Ensembl
Innerchr12:1365641..1366425hg19UCSC Ensembl
Innerchr12:1235902..1236686hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38785
hg19785
hg18785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24813
Supporting Variantsessv82924, essv56978, essv52974, essv50676, essv73346, essv52706, essv43976, essv33990, essv73049, essv70614, essv40661, essv76614, essv78497, essv64998, essv32184, essv67939, essv75083, essv80242, essv82447, essv48077, essv41216, essv61310, essv44767, essv50086, essv78720, essv39533, essv48299, essv37296, essv55946, essv76338, essv63290, essv55176
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA11993, NA12489, NA12878, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18858, NA18909, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA12006, NA18511, NA12776
Known GenesERC1
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)esv18156
Frequency
Sample Size40
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer