A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13312186



Internal ID426208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124204096..124208598hg38UCSC Ensembl
Innerchr8:124204124..124208571hg38UCSC Ensembl
Outerchr8:124204069..124208626hg38UCSC Ensembl
chr8:125216337..125220839hg19UCSC Ensembl
Innerchr8:125216365..125220812hg19UCSC Ensembl
Outerchr8:125216310..125220867hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384503
hg194503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618686
Supporting Variants
SamplesHG00129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13312186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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