A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368668



Internal ID14868927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876686..17877784hg38UCSC Ensembl
Innerchr22:17876784..17877686hg38UCSC Ensembl
Outerchr22:17875686..17878784hg38UCSC Ensembl
chr22:18359452..18360550hg19UCSC Ensembl
Innerchr22:18359550..18360452hg19UCSC Ensembl
Outerchr22:18358452..18361550hg19UCSC Ensembl
chr22:16739452..16740550hg18UCSC Ensembl
Innerchr22:16740452..16739550hg18UCSC Ensembl
Outerchr22:16738452..16741550hg18UCSC 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 Variantsdgv2561e59
Supporting Variantsessv8693040
SamplesNA12891
Known GenesMICAL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368668
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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