A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674382



Internal ID15073262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36165232..36165256hg38UCSC Ensembl
Innerchr22:36165221..36165267hg38UCSC Ensembl
Outerchr22:36165197..36165288hg38UCSC Ensembl
chr22:36561280..36561304hg19UCSC Ensembl
Innerchr22:36561269..36561315hg19UCSC Ensembl
Outerchr22:36561245..36561336hg19UCSC Ensembl
chr22:34891226..34891250hg18UCSC Ensembl
Innerchr22:34891261..34891215hg18UCSC Ensembl
Outerchr22:34891191..34891282hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431226
Supporting Variants
SamplesNA19239
Known GenesAPOL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674382
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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