A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693322



Internal ID14769474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44883708..44885006hg38UCSC Ensembl
Innerchr22:44884006..44884708hg38UCSC Ensembl
Outerchr22:44882708..44886006hg38UCSC Ensembl
chr22:45279588..45280886hg19UCSC Ensembl
Innerchr22:45279886..45280588hg19UCSC Ensembl
Outerchr22:45278588..45281886hg19UCSC Ensembl
chr22:43658252..43659550hg18UCSC Ensembl
Innerchr22:43659252..43658550hg18UCSC Ensembl
Outerchr22:43657252..43660550hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334624
Supporting Variants
SamplesNA19240
Known GenesPHF21B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693322
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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