A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13243594



Internal ID3384942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83573882..83583568hg38UCSC Ensembl
Innerchr8:83573882..83583568hg38UCSC Ensembl
Outerchr8:83573787..83583667hg38UCSC Ensembl
chr8:84486117..84495803hg19UCSC Ensembl
Innerchr8:84486117..84495803hg19UCSC Ensembl
Outerchr8:84486022..84495902hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg389687
hg199687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617841
Supporting Variants
SamplesHG03028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13243594
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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