A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658487



Internal ID9924592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92354267..92404542hg38UCSC Ensembl
Outerchr12:92354221..92404603hg38UCSC Ensembl
Innerchr12:92748043..92798318hg19UCSC Ensembl
Outerchr12:92747997..92798379hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3850383
hg1950383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6341323
SamplesNA18619
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658487
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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