A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153251



Internal ID3155067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28597539..28609092hg38UCSC Ensembl
Innerchr8:28597567..28609065hg38UCSC Ensembl
Outerchr8:28597512..28609120hg38UCSC Ensembl
chr8:28455056..28466609hg19UCSC Ensembl
Innerchr8:28455084..28466582hg19UCSC Ensembl
Outerchr8:28455029..28466637hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3811554
hg1911554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616742
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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