A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618005



Internal ID7004888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90712285..90717420hg38UCSC Ensembl
Innerchr8:90712288..90717417hg38UCSC Ensembl
Outerchr8:90712282..90717423hg38UCSC Ensembl
chr8:91724513..91729648hg19UCSC Ensembl
Innerchr8:91724516..91729645hg19UCSC Ensembl
Outerchr8:91724510..91729651hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg385136
hg195136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13253855, essv13253856, essv13253854
SamplesHG03559, HG03583, HG03078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618005
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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