A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308782



Internal ID14809045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19223365..19223366hg38UCSC Ensembl
Innerchr22:19223328..19223403hg38UCSC Ensembl
Outerchr22:19223327..19223404hg38UCSC Ensembl
chr22:19210888..19210889hg19UCSC Ensembl
Innerchr22:19210851..19210926hg19UCSC Ensembl
Outerchr22:19210850..19210927hg19UCSC Ensembl
chr22:17590888..17590889hg18UCSC Ensembl
Innerchr22:17590926..17590851hg18UCSC Ensembl
Outerchr22:17590850..17590927hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386036
hg196036
hg186036
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836879
SamplesNA19239
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308782
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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