A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13081280



Internal ID3083096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7134237..7137864hg38UCSC Ensembl
chr8:6991759..6995386hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383628
hg193628
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616110
Supporting Variants
SamplesNA18550
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13081280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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