A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675828



Internal ID9941933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103119910..103123426hg38UCSC Ensembl
chr8:104132138..104135654hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5454228
SamplesNA19703
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675828
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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