A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022018



Internal ID4564548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112037807..112108347hg38UCSC Ensembl
Innerchr5:112037807..112108347hg38UCSC Ensembl
Outerchr5:112037307..112108847hg38UCSC Ensembl
chr5:111373504..111444044hg19UCSC Ensembl
Innerchr5:111373504..111444044hg19UCSC Ensembl
Outerchr5:111373004..111444544hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3870541
hg1970541
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606284
Supporting Variants
SamplesHG04063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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