A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9681069



Internal ID13618463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43258403..43258422hg38UCSC Ensembl
Innerchr22:43258399..43258426hg38UCSC Ensembl
Outerchr22:43258380..43258445hg38UCSC Ensembl
chr22:43654409..43654428hg19UCSC Ensembl
Innerchr22:43654405..43654432hg19UCSC Ensembl
Outerchr22:43654386..43654451hg19UCSC Ensembl
chr22:41984353..41984372hg18UCSC Ensembl
Innerchr22:41984376..41984349hg18UCSC Ensembl
Outerchr22:41984330..41984395hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433826
Supporting Variants
SamplesNA12873
Known GenesSCUBE1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9681069
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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