A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617976



Internal ID7004859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89387093..89514888hg38UCSC Ensembl
Innerchr8:89387093..89514888hg38UCSC Ensembl
Outerchr8:89386593..89515388hg38UCSC Ensembl
chr8:90399322..90527117hg19UCSC Ensembl
Innerchr8:90399322..90527117hg19UCSC Ensembl
Outerchr8:90398822..90527617hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38127796
hg19127796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13252057
SamplesNA19795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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