A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618537



Internal ID7005419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116439743..116442199hg38UCSC Ensembl
Innerchr8:116439743..116442199hg38UCSC Ensembl
Outerchr8:116439623..116442401hg38UCSC Ensembl
chr8:117451981..117454437hg19UCSC Ensembl
Innerchr8:117451981..117454437hg19UCSC Ensembl
Outerchr8:117451861..117454639hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13300550, essv13300551
SamplesNA19904, HG03476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618537
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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