A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693318



Internal ID15035493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44334008..44336406hg38UCSC Ensembl
Innerchr22:44335008..44335406hg38UCSC Ensembl
Outerchr22:44333415..44337406hg38UCSC Ensembl
chr22:44729888..44732286hg19UCSC Ensembl
Innerchr22:44730888..44731286hg19UCSC Ensembl
Outerchr22:44729295..44733286hg19UCSC Ensembl
chr22:43108552..43110950hg18UCSC Ensembl
Innerchr22:43109552..43109950hg18UCSC Ensembl
Outerchr22:43107552..43111950hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414874
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693318
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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