A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310025



Internal ID14810290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43928710..43928711hg38UCSC Ensembl
Innerchr22:43928682..43928739hg38UCSC Ensembl
Outerchr22:43928681..43928740hg38UCSC Ensembl
chr22:44324590..44324591hg19UCSC Ensembl
Innerchr22:44324562..44324619hg19UCSC Ensembl
Outerchr22:44324561..44324620hg19UCSC Ensembl
chr22:42655923..42655924hg18UCSC Ensembl
Innerchr22:42655952..42655895hg18UCSC Ensembl
Outerchr22:42655894..42655953hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836692, essv7837300
SamplesNA19239, NA19240
Known GenesPNPLA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310025
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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