A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11980959



Internal ID3497612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:92829367..92833144hg38UCSC Ensembl
Innerchr5:92829401..92833110hg38UCSC Ensembl
Outerchr5:92829333..92833178hg38UCSC Ensembl
chr5:92165074..92168851hg19UCSC Ensembl
Innerchr5:92165108..92168817hg19UCSC Ensembl
Outerchr5:92165040..92168885hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383778
hg193778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605797
Supporting Variants
SamplesHG03105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11980959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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