A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19682



Internal ID11383601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5928260..5932825hg38UCSC Ensembl
Innerchr12:6037426..6041991hg19UCSC Ensembl
Innerchr12:5907687..5912252hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384566
hg194566
hg184566
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22765
Supporting Variantsessv66454, essv44374, essv32283, essv80481, essv78767, essv75838, essv65315, essv56032, essv61631, essv50708, essv48330, essv39051
SamplesNA11995, NA12414, NA11931, NA12287, NA12828, NA12489, NA12239, NA19147, NA19240, NA07037, NA12749, NA12776
Known GenesANO2
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)esv19682
Frequency
Sample Size40
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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