A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13261223



Internal ID5310058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95036779..95042547hg38UCSC Ensembl
Innerchr8:95036813..95042514hg38UCSC Ensembl
Outerchr8:95036746..95042581hg38UCSC Ensembl
chr8:96049007..96054775hg19UCSC Ensembl
Innerchr8:96049041..96054742hg19UCSC Ensembl
Outerchr8:96048974..96054809hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg385769
hg195769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618095
Supporting Variants
SamplesNA18858
Known GenesNDUFAF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13261223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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