A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13161452



Internal ID1797433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33560575..33562646hg38UCSC Ensembl
Innerchr8:33560575..33562646hg38UCSC Ensembl
Outerchr8:33560359..33562976hg38UCSC Ensembl
chr8:33418093..33420164hg19UCSC Ensembl
Innerchr8:33418093..33420164hg19UCSC Ensembl
Outerchr8:33417877..33420494hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616836
Supporting Variants
SamplesHG01676
Known GenesRNF122
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13161452
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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