A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132560



Internal ID1067486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20702606..20725354hg38UCSC Ensembl
Innerchr8:20702672..20725289hg38UCSC Ensembl
Outerchr8:20702541..20725420hg38UCSC Ensembl
chr8:20560117..20582865hg19UCSC Ensembl
Innerchr8:20560183..20582800hg19UCSC Ensembl
Outerchr8:20560052..20582931hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3822749
hg1922749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616576
Supporting Variants
SamplesHG00692
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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