A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv57n68



Internal ID19006578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25041473..25257024hg38UCSC Ensembl
chr2:25264342..25479893hg19UCSC Ensembl
chr2:25117846..25333397hg18UCSC Ensembl
chr2:25175993..25391544hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38215552
hg19215552
hg18215552
hg17215552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833581, nsv833592
Samples
Known GenesDNMT3A, EFR3B, POMC
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)dgv57n68
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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