A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409744



Internal ID14910018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33565606..33565702hg38UCSC Ensembl
Innerchr22:33565618..33565690hg38UCSC Ensembl
Outerchr22:33565594..33565714hg38UCSC Ensembl
chr22:33961592..33961688hg19UCSC Ensembl
Innerchr22:33961604..33961676hg19UCSC Ensembl
Outerchr22:33961580..33961700hg19UCSC Ensembl
chr22:32291592..32291688hg18UCSC Ensembl
Innerchr22:32291604..32291676hg18UCSC Ensembl
Outerchr22:32291580..32291700hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670973, essv8670977, essv8670975, essv8670976
SamplesNA12892, NA19238, NA12891, NA12878
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409744
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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