A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28n68



Internal ID22782268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20499235..20668238hg38UCSC Ensembl
chr15:20704488..20873567hg19UCSC Ensembl
chr15:18964502..19133581hg18UCSC Ensembl
chr15:18964502..19133581hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38169004
hg19169080
hg18169080
hg17169080
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv832909, nsv832910
Samples
Known GenesGOLGA6L6, GOLGA8CP, HERC2P3
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)dgv28n68
Frequency
Sample Size95
Observed Gain20
Observed Loss5
Observed Complex0
Frequencyn/a


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