A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678698



Internal ID9944803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46727870..46732419hg38UCSC Ensembl
Outerchr1:46727713..46732572hg38UCSC Ensembl
Innerchr1:47193542..47198091hg19UCSC Ensembl
Outerchr1:47193385..47198244hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384860
hg194860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6471300
SamplesNA19701
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678698
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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