A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617799



Internal ID7004684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81545121..81547816hg38UCSC Ensembl
Innerchr8:81545121..81547816hg38UCSC Ensembl
Outerchr8:81545041..81547904hg38UCSC Ensembl
chr8:82457356..82460051hg19UCSC Ensembl
Innerchr8:82457356..82460051hg19UCSC Ensembl
Outerchr8:82457276..82460139hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg382696
hg192696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13240439, essv13240440, essv13240441, essv13240442
SamplesNA21111, HG04238, HG03689, HG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617799
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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