A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616742



Internal ID6656938
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153250, essv13153251
SamplesHG00325, NA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616742
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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