A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616974



Internal ID6657170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40594974..40597871hg38UCSC Ensembl
Innerchr8:40594984..40597861hg38UCSC Ensembl
Outerchr8:40594964..40597881hg38UCSC Ensembl
chr8:40452493..40455390hg19UCSC Ensembl
Innerchr8:40452503..40455380hg19UCSC Ensembl
Outerchr8:40452483..40455400hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382898
hg192898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13177406
SamplesHG03864
Known GenesZMAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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