A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3n43



Internal ID18992040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:22153462..23040894hg38UCSC Ensembl
chr19:22336264..23223696hg19UCSC Ensembl
chr19:22128104..23015536hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38887433
hg19887433
hg18887433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv819194, nsv819205
SamplesAK1
Known GenesLOC100996349, LOC440518, ZNF492, ZNF676, ZNF728, ZNF729, ZNF98, ZNF99
MethodOligo aCGH
SNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
The array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGPL6985
GPL8887
GSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)dgv3n43
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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