A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356489



Internal ID15203469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36165249..36165259hg38UCSC Ensembl
Innerchr22:36165243..36165263hg38UCSC Ensembl
Outerchr22:36165235..36165273hg38UCSC Ensembl
chr22:36561297..36561307hg19UCSC Ensembl
Innerchr22:36561291..36561311hg19UCSC Ensembl
Outerchr22:36561283..36561321hg19UCSC Ensembl
chr22:34891243..34891253hg18UCSC Ensembl
Innerchr22:34891257..34891237hg18UCSC Ensembl
Outerchr22:34891229..34891267hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38157
hg19157
hg18157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8977790, essv8977787, essv8977796, essv8977788, essv8977797, essv8977791, essv8977798, essv8977795, essv8977789, essv8977794, essv8977792
SamplesNA18504, NA19190, NA18870, NA18510, NA18907, NA18499, NA18912, NA18523, NA19108, NA18501, NA18505
Known GenesAPOL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356489
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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