A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693316



Internal ID13740542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44333415..44336206hg38UCSC Ensembl
Innerchr22:44334408..44335206hg38UCSC Ensembl
Outerchr22:44333415..44337206hg38UCSC Ensembl
chr22:44729295..44732086hg19UCSC Ensembl
Innerchr22:44730288..44731086hg19UCSC Ensembl
Outerchr22:44729295..44733086hg19UCSC Ensembl
chr22:43107952..43110750hg18UCSC Ensembl
Innerchr22:43108952..43109750hg18UCSC Ensembl
Outerchr22:43106952..43111750hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382792
hg192792
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412325
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693316
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