A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893475



Internal ID18837609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32228077..32260035hg38UCSC Ensembl
Outerchr22:32228077..32260035hg38UCSC Ensembl
Innerchr22:32624064..32656022hg19UCSC Ensembl
Outerchr22:32624064..32656022hg19UCSC Ensembl
Innerchr22:30954064..30986022hg18UCSC Ensembl
Outerchr22:30954064..30986022hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3831959
hg1931959
hg1831959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790564
Samples
Known GenesSLC5A4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893475
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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