A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673489



Internal ID9939594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35628098..35630898hg38UCSC Ensembl
chr22:36024145..36026945hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5469648, essv6459415, essv6380447
SamplesNA12843, NA11992, HG00328
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673489
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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