A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618648



Internal ID7005530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122465649..122471331hg38UCSC Ensembl
Innerchr8:122465677..122471304hg38UCSC Ensembl
Outerchr8:122465622..122471359hg38UCSC Ensembl
chr8:123477888..123483570hg19UCSC Ensembl
Innerchr8:123477916..123483543hg19UCSC Ensembl
Outerchr8:123477861..123483598hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg385683
hg195683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13308846
SamplesHG03934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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