A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13134444



Internal ID3403221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23073951..23076914hg38UCSC Ensembl
Innerchr8:23073962..23076904hg38UCSC Ensembl
Outerchr8:23073941..23076925hg38UCSC Ensembl
chr8:22931464..22934427hg19UCSC Ensembl
Innerchr8:22931475..22934417hg19UCSC Ensembl
Outerchr8:22931454..22934438hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382964
hg192964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616621
Supporting Variants
SamplesHG03049
Known GenesLOC286059
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13134444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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