A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338088



Internal ID5882077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133347325..133347931hg38UCSC Ensembl
Innerchr8:133347375..133347881hg38UCSC Ensembl
Outerchr8:133347163..133348093hg38UCSC Ensembl
chr8:134359568..134360174hg19UCSC Ensembl
Innerchr8:134359618..134360124hg19UCSC Ensembl
Outerchr8:134359406..134360336hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618886
Supporting Variants
SamplesNA19308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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