A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9681058



Internal ID13070390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43231992..43232011hg38UCSC Ensembl
Innerchr22:43231988..43232015hg38UCSC Ensembl
Outerchr22:43231969..43232034hg38UCSC Ensembl
chr22:43627998..43628017hg19UCSC Ensembl
Innerchr22:43627994..43628021hg19UCSC Ensembl
Outerchr22:43627975..43628040hg19UCSC Ensembl
chr22:41957942..41957961hg18UCSC Ensembl
Innerchr22:41957965..41957938hg18UCSC Ensembl
Outerchr22:41957919..41957984hg18UCSC 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 Variantsesv3355407
Supporting Variants
SamplesNA07347
Known GenesSCUBE1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9681058
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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