A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673502



Internal ID9592921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49954714..49960114hg38UCSC Ensembl
Outerchr22:49954677..49960164hg38UCSC Ensembl
Innerchr22:50348362..50353762hg19UCSC Ensembl
Outerchr22:50348325..50353812hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385488
hg195488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv839e199
Supporting Variantsessv5708050
SamplesNA18616
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673502
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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