A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17877



Internal ID11035111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8392288..8449233hg38UCSC Ensembl
Innerchr12:8544884..8601829hg19UCSC Ensembl
Innerchr12:8436151..8493096hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3856946
hg1956946
hg1856946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29886
Supporting Variantsessv81435, essv45330, essv66114, essv84055, essv41219, essv71023, essv77204, essv50009, essv58326, essv43280
SamplesNA19190, NA18916, NA19114, NA18909, NA19108, NA18517, NA19240, NA18505, NA19129, NA18511
Known Genes
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)esv17877
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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