A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8855n54



Internal ID22776750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197002210..197003542hg38UCSC Ensembl
chr3:196729081..196730413hg19UCSC Ensembl
chr3:198213478..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381333
hg191333
hg181333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593112, nsv593109
Samples
Known GenesMFI2, MFI2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8855n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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