A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616517



Internal ID6656713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18186360..18198700hg38UCSC Ensembl
Innerchr8:18186393..18198667hg38UCSC Ensembl
Outerchr8:18186327..18198733hg38UCSC Ensembl
chr8:18043869..18056209hg19UCSC Ensembl
Innerchr8:18043902..18056176hg19UCSC Ensembl
Outerchr8:18043836..18056242hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3812341
hg1912341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13129917, essv13129916
SamplesHG02807, HG02464
Known GenesNAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616517
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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