A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132801



Internal ID6793847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21174482..21185617hg38UCSC Ensembl
Innerchr8:21174503..21185596hg38UCSC Ensembl
Outerchr8:21174461..21185638hg38UCSC Ensembl
chr8:21031993..21043128hg19UCSC Ensembl
Innerchr8:21032014..21043107hg19UCSC Ensembl
Outerchr8:21031972..21043149hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3811136
hg1911136
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616589
Supporting Variants
SamplesNA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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