A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338125



Internal ID3351986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133673842..133680975hg38UCSC Ensembl
Innerchr8:133673842..133680975hg38UCSC Ensembl
Outerchr8:133673791..133681161hg38UCSC Ensembl
chr8:134686085..134693218hg19UCSC Ensembl
Innerchr8:134686085..134693218hg19UCSC Ensembl
Outerchr8:134686034..134693404hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg387134
hg197134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618897
Supporting Variants
SamplesHG03006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338125
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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