A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13335037



Internal ID3041343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132054067..132066302hg38UCSC Ensembl
Innerchr8:132054067..132066302hg38UCSC Ensembl
Outerchr8:132053567..132066802hg38UCSC Ensembl
chr8:133066314..133078549hg19UCSC Ensembl
Innerchr8:133066314..133078549hg19UCSC Ensembl
Outerchr8:133065814..133079049hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3812236
hg1912236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618869
Supporting Variants
SamplesHG02678
Known GenesHHLA1, OC90
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13335037
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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