A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674672



Internal ID9940777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48337945..48351745hg38UCSC Ensembl
Outerchr22:48337908..48351795hg38UCSC Ensembl
Innerchr22:48733757..48747557hg19UCSC Ensembl
Outerchr22:48733720..48747607hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3813888
hg1913888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6273241
SamplesHG00136
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674672
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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