A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677311



Internal ID9596730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46987194..46988989hg38UCSC Ensembl
Outerchr22:46987037..46989142hg38UCSC Ensembl
Innerchr22:47383090..47384885hg19UCSC Ensembl
Outerchr22:47382933..47385038hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5461312
SamplesHG00475
Known GenesTBC1D22A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677311
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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