A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13242449



Internal ID6831745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83084031..83150500hg38UCSC Ensembl
chr8:83996266..84062735hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3866470
hg1966470
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617829
Supporting Variants
SamplesNA20904
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13242449
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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