A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678494



Internal ID13318516
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 StatusS
Merged Variantsesv3387591
Supporting Variants
SamplesNA12878
Known GenesCLTCL1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678494
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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