A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2313n54



Internal ID22770208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6134450..6150735hg38UCSC Ensembl
chr12:6243616..6259901hg19UCSC Ensembl
chr12:6113877..6130162hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3816286
hg1916286
hg1816286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557225, nsv557206, nsv557220, nsv557226
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2313n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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