A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13300551



Internal ID6301352
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618537
Supporting Variants
SamplesNA19904
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13300551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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