A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678421



Internal ID2911508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33371878..33373731hg38UCSC Ensembl
Outerchr22:33371721..33373884hg38UCSC Ensembl
Innerchr22:33767864..33769717hg19UCSC Ensembl
Outerchr22:33767707..33769870hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382164
hg192164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6149025
SamplesHG00268
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678421
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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