A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670211



Internal ID9936316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96414841..96418300hg38UCSC Ensembl
chr8:97427069..97430528hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383460
hg193460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5585270, essv5620825
SamplesHG01455, NA12272
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670211
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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