A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337624



Internal ID15184611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21214863..21215961hg38UCSC Ensembl
Innerchr22:21214961..21215863hg38UCSC Ensembl
Outerchr22:21213863..21216961hg38UCSC Ensembl
chr22:21569152..21570250hg19UCSC Ensembl
Innerchr22:21569250..21570152hg19UCSC Ensembl
Outerchr22:21568152..21571250hg19UCSC Ensembl
chr22:19899152..19900250hg18UCSC Ensembl
Innerchr22:19900152..19899250hg18UCSC Ensembl
Outerchr22:19898152..19901250hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2582e59
Supporting Variantsessv8693211
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337624
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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