A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13251597



Internal ID3253413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88665414..88673989hg38UCSC Ensembl
Innerchr8:88665564..88673839hg38UCSC Ensembl
Outerchr8:88665264..88674139hg38UCSC Ensembl
chr8:89677643..89686218hg19UCSC Ensembl
Innerchr8:89677793..89686068hg19UCSC Ensembl
Outerchr8:89677493..89686368hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388576
hg198576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617953
Supporting Variants
SamplesHG01990
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13251597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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