A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364622



Internal ID3366438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143421425..143424196hg38UCSC Ensembl
Innerchr8:143421425..143424196hg38UCSC Ensembl
Outerchr8:143421176..143424435hg38UCSC Ensembl
chr8:144503595..144506366hg19UCSC Ensembl
Innerchr8:144503595..144506366hg19UCSC Ensembl
Outerchr8:144503346..144506605hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382772
hg192772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619110
Supporting Variants
SamplesHG03237
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364622
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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