A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667907



Internal ID9934012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38342178..38343332hg38UCSC Ensembl
chr22:38738183..38739337hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5632049, essv5918859, essv6594836, essv5470394, essv5753205, essv6081549, essv5960246, essv6505907, essv5705195, essv5658063
SamplesNA19446, NA19379, NA19916, NA19385, NA19462, NA19434, NA19444, NA19439, NA19474, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667907
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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