A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750021



Internal ID13039112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43928706..43928707hg38UCSC Ensembl
Innerchr22:43928675..43928738hg38UCSC Ensembl
Outerchr22:43928674..43928739hg38UCSC Ensembl
chr22:44324586..44324587hg19UCSC Ensembl
Innerchr22:44324555..44324618hg19UCSC Ensembl
Outerchr22:44324554..44324619hg19UCSC Ensembl
chr22:42655919..42655920hg18UCSC Ensembl
Innerchr22:42655951..42655888hg18UCSC Ensembl
Outerchr22:42655887..42655952hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305617
Supporting Variants
SamplesNA12144
Known GenesPNPLA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750021
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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