A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674668



Internal ID9940773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11034232..11064364hg38UCSC Ensembl
Outerchr12:11034198..11064399hg38UCSC Ensembl
Innerchr12:11186831..11216963hg19UCSC Ensembl
Outerchr12:11186797..11216998hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3830202
hg1930202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267e199
Supporting Variantsessv5498304
SamplesHG00362
Known GenesPRH1-PRR4, TAS2R46
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674668
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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