A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341763



Internal ID15188748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16367190..16382388hg38UCSC Ensembl
Innerchr22:16368190..16381388hg38UCSC Ensembl
Outerchr22:16367189..16383388hg38UCSC Ensembl
chr22:16847852..16863050hg19UCSC Ensembl
Innerchr22:16848852..16862050hg19UCSC Ensembl
Outerchr22:16847851..16864050hg19UCSC Ensembl
chr22:15227852..15243050hg18UCSC Ensembl
Innerchr22:15228852..15242050hg18UCSC Ensembl
Outerchr22:15226852..15244050hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3815199
hg1915199
hg1815199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2552e59
Supporting Variantsessv8693002
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341763
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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