A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11904178



Internal ID6100416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55183557..55184043hg38UCSC Ensembl
Innerchr5:55183558..55184043hg38UCSC Ensembl
Outerchr5:55183557..55184044hg38UCSC Ensembl
chr5:54479385..54479871hg19UCSC Ensembl
Innerchr5:54479386..54479871hg19UCSC Ensembl
Outerchr5:54479385..54479872hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605095
Supporting Variants
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11904178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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