A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674871



Internal ID9940976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114194265..114200201hg38UCSC Ensembl
chr12:114632070..114638006hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385937
hg195937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833325, essv6552467, essv6043167, essv6111135, essv6517013, essv6270271, essv5853261, essv5955806
SamplesHG00231, HG01462, NA20812, NA19788, HG00284, NA19685, NA20815, NA19661
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674871
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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