A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2301n54



Internal ID22770196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5283653..5368982hg38UCSC Ensembl
chr12:5392819..5478148hg19UCSC Ensembl
chr12:5263080..5348409hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3885330
hg1985330
hg1885330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557153, nsv557154
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2301n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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