A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13257997



Internal ID6709311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92370802..92381359hg38UCSC Ensembl
Innerchr8:92370802..92381359hg38UCSC Ensembl
Outerchr8:92370302..92381859hg38UCSC Ensembl
chr8:93383030..93393587hg19UCSC Ensembl
Innerchr8:93383030..93393587hg19UCSC Ensembl
Outerchr8:93382530..93394087hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3810558
hg1910558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618039
Supporting Variants
SamplesNA20845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13257997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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