A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866257



Internal ID13318332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41141667..41141684hg38UCSC Ensembl
Innerchr22:41141669..41141682hg38UCSC Ensembl
Outerchr22:41141665..41141686hg38UCSC Ensembl
chr22:41537671..41537688hg19UCSC Ensembl
Innerchr22:41537673..41537686hg19UCSC Ensembl
Outerchr22:41537669..41537690hg19UCSC Ensembl
chr22:39867617..39867634hg18UCSC Ensembl
Innerchr22:39867619..39867632hg18UCSC Ensembl
Outerchr22:39867615..39867636hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400955
Supporting Variants
SamplesNA12005
Known GenesEP300
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866257
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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