A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6n43



Internal ID22767762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:83811694..84086904hg38UCSC Ensembl
chr2:84038818..84314028hg19UCSC Ensembl
chr2:83892329..84167539hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38275211
hg19275211
hg18275211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv819730, nsv819091
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.
PlatformGPL8887
GSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)dgv6n43
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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