A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49n68



Internal ID20147818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14066502..14274131hg38UCSC Ensembl
chr19:14177314..14384943hg19UCSC Ensembl
chr19:14038314..14245943hg18UCSC Ensembl
chr19:14038314..14245943hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38207630
hg19207630
hg18207630
hg17207630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833762, nsv833763
Samples
Known GenesASF1B, C19orf67, LOC100507373, LOC113230, LPHN1, MIR1199, PRKACA, SAMD1
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)dgv49n68
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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