A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652159



Internal ID14755408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31225883..31226563hg38UCSC Ensembl
Innerchr22:31225883..31226563hg38UCSC Ensembl
Outerchr22:31225642..31226572hg38UCSC Ensembl
chr22:31621869..31622549hg19UCSC Ensembl
Innerchr22:31621869..31622549hg19UCSC Ensembl
Outerchr22:31621628..31622558hg19UCSC Ensembl
chr22:29951869..29952549hg18UCSC Ensembl
Innerchr22:29951869..29952549hg18UCSC Ensembl
Outerchr22:29951628..29952558hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38681
hg19681
hg18681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436353
Supporting Variants
SamplesNA19240
Known GenesLIMK2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652159
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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