A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617774



Internal ID7004659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80268872..80272268hg38UCSC Ensembl
chr8:81181107..81184503hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383397
hg193397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13238937, essv13238935, essv13238936
SamplesHG00179, HG00284, HG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617774
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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