A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13117948



Internal ID3119764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:15544155..15557282hg38UCSC Ensembl
Innerchr8:15544155..15557282hg38UCSC Ensembl
Outerchr8:15543655..15557782hg38UCSC Ensembl
chr8:15401664..15414791hg19UCSC Ensembl
Innerchr8:15401664..15414791hg19UCSC Ensembl
Outerchr8:15401164..15415291hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3813128
hg1913128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616406
Supporting Variants
SamplesHG01619
Known GenesTUSC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13117948
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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