A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9984188



Internal ID1705022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79112268..79295847hg38UCSC Ensembl
Innerchr1:79112268..79295847hg38UCSC Ensembl
Outerchr1:79111768..79296347hg38UCSC Ensembl
chr1:79577953..79761532hg19UCSC Ensembl
Innerchr1:79577953..79761532hg19UCSC Ensembl
Outerchr1:79577453..79762032hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38183580
hg19183580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586571
Supporting Variants
SamplesHG01586
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9984188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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