A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13253693



Internal ID6331660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89724786..89728692hg38UCSC Ensembl
Innerchr8:89724786..89728692hg38UCSC Ensembl
Outerchr8:89724426..89728950hg38UCSC Ensembl
chr8:90737014..90740920hg19UCSC Ensembl
Innerchr8:90737014..90740920hg19UCSC Ensembl
Outerchr8:90736654..90741178hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383907
hg193907
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617987
Supporting Variants
SamplesNA19923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13253693
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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