A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11904018



Internal ID1838592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54814721..54825501hg38UCSC Ensembl
Innerchr5:54814749..54825473hg38UCSC Ensembl
Outerchr5:54814693..54825529hg38UCSC Ensembl
chr5:54110549..54121329hg19UCSC Ensembl
Innerchr5:54110577..54121301hg19UCSC Ensembl
Outerchr5:54110521..54121357hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3810781
hg1910781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605091
Supporting Variants
SamplesHG01707
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11904018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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