A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11794574



Internal ID3321091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4554566..4557483hg38UCSC Ensembl
Innerchr5:4554575..4557475hg38UCSC Ensembl
Outerchr5:4554558..4557492hg38UCSC Ensembl
chr5:4554679..4557596hg19UCSC Ensembl
Innerchr5:4554688..4557588hg19UCSC Ensembl
Outerchr5:4554671..4557605hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg382918
hg192918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603880
Supporting Variants
SamplesHG02970
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11794574
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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