A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618686



Internal ID7005568
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13312186
SamplesHG00129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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