A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676328



Internal ID9942433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89724788..89728692hg38UCSC Ensembl
chr8:90737016..90740920hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383905
hg193905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5661125, essv5952555
SamplesNA18504, HG01375
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676328
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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