A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387591



Internal ID14887874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19287637..19287656hg38UCSC Ensembl
Innerchr22:19287633..19287660hg38UCSC Ensembl
Outerchr22:19287614..19287679hg38UCSC Ensembl
chr22:19275160..19275179hg19UCSC Ensembl
Innerchr22:19275156..19275183hg19UCSC Ensembl
Outerchr22:19275137..19275202hg19UCSC Ensembl
chr22:17655160..17655179hg18UCSC Ensembl
Innerchr22:17655183..17655156hg18UCSC Ensembl
Outerchr22:17655137..17655202hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678494
SamplesNA12878
Known GenesCLTCL1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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