A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13239193



Internal ID4692242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81016025..81020776hg38UCSC Ensembl
Innerchr8:81016035..81020766hg38UCSC Ensembl
Outerchr8:81016015..81020786hg38UCSC Ensembl
chr8:81928260..81933011hg19UCSC Ensembl
Innerchr8:81928270..81933001hg19UCSC Ensembl
Outerchr8:81928250..81933021hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384752
hg194752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617787
Supporting Variants
SamplesHG04212
Known GenesPAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13239193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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