A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7753100



Internal ID12902844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19223370..19223371hg38UCSC Ensembl
Innerchr22:19223337..19223404hg38UCSC Ensembl
Outerchr22:19223336..19223405hg38UCSC Ensembl
chr22:19210893..19210894hg19UCSC Ensembl
Innerchr22:19210860..19210927hg19UCSC Ensembl
Outerchr22:19210859..19210928hg19UCSC Ensembl
chr22:17590893..17590894hg18UCSC Ensembl
Innerchr22:17590927..17590860hg18UCSC Ensembl
Outerchr22:17590859..17590928hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386006
hg196006
hg186006
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307775
Supporting Variants
SamplesNA11993
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7753100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer