A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv59n68



Internal ID11616785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43619845..43871585hg38UCSC Ensembl
chr2:43846984..44098724hg19UCSC Ensembl
chr2:43700488..43952228hg18UCSC Ensembl
chr2:43758635..44010375hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38251741
hg19251741
hg18251741
hg17251741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833914, nsv833925
Samples
Known GenesABCG5, ABCG8, DYNC2LI1, LOC728819, PLEKHH2
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv59n68
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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