A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671043



Internal ID9937148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47526740..47528310hg38UCSC Ensembl
Outerchr22:47526583..47528463hg38UCSC Ensembl
Innerchr22:47922489..47924059hg19UCSC Ensembl
Outerchr22:47922332..47924212hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381881
hg191881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5636221, essv5861528
SamplesHG01137, NA19360
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671043
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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