A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676239



Internal ID9942344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83989239..83994748hg38UCSC Ensembl
Outerchr5:83989202..83994798hg38UCSC Ensembl
Innerchr5:83285058..83290567hg19UCSC Ensembl
Outerchr5:83285021..83290617hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385597
hg195597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5800393
SamplesNA19713
Known GenesEDIL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676239
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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