A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13308846



Internal ID4418349
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618648
Supporting Variants
SamplesHG03934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13308846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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