A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375117



Internal ID15222092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40007161..40007752hg38UCSC Ensembl
Innerchr22:40007161..40007752hg38UCSC Ensembl
Outerchr22:40007104..40007888hg38UCSC Ensembl
chr22:40403165..40403756hg19UCSC Ensembl
Innerchr22:40403165..40403756hg19UCSC Ensembl
Outerchr22:40403108..40403892hg19UCSC Ensembl
chr22:38733111..38733702hg18UCSC Ensembl
Innerchr22:38733111..38733702hg18UCSC Ensembl
Outerchr22:38733054..38733838hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652166
SamplesNA19240
Known GenesFAM83F
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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