A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671480



Internal ID9937585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239495813..239500323hg38UCSC Ensembl
Outerchr1:239495776..239500373hg38UCSC Ensembl
Innerchr1:239659113..239663623hg19UCSC Ensembl
Outerchr1:239659076..239663673hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384598
hg194598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587302
SamplesHG01055
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671480
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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