A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213658



Internal ID6790762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64577060..64579672hg38UCSC Ensembl
Innerchr8:64577110..64579622hg38UCSC Ensembl
Outerchr8:64577010..64579722hg38UCSC Ensembl
chr8:65489617..65492229hg19UCSC Ensembl
Innerchr8:65489667..65492179hg19UCSC Ensembl
Outerchr8:65489567..65492279hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382613
hg192613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617452
Supporting Variants
SamplesNA20886
Known GenesLOC401463
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213658
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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