A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307709



Internal ID15154657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36165249..36165250hg38UCSC Ensembl
Innerchr22:36165223..36165276hg38UCSC Ensembl
Outerchr22:36165222..36165277hg38UCSC Ensembl
chr22:36561297..36561298hg19UCSC Ensembl
Innerchr22:36561271..36561324hg19UCSC Ensembl
Outerchr22:36561270..36561325hg19UCSC Ensembl
chr22:34891243..34891244hg18UCSC Ensembl
Innerchr22:34891270..34891217hg18UCSC Ensembl
Outerchr22:34891216..34891271hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746061, essv7752720, essv7761400, essv7756372, essv7744277, essv7756244, essv7760130, essv7740633, essv7763178, essv7754934, essv7744701, essv7750253, essv7755574
SamplesNA18504, NA19190, NA18870, NA18510, NA19239, NA18907, NA18499, NA18912, NA18523, NA19108, NA19240, NA18501, NA18505
Known GenesAPOL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307709
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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