A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4n43



Internal ID22767760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:22048731..22879678hg38UCSC Ensembl
chr2:22271603..23102550hg19UCSC Ensembl
chr2:22125108..22956055hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38830948
hg19830948
hg18830948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv819680, nsv819524, nsv820011, nsv820147
SamplesAK1
Known Genes
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)dgv4n43
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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