A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757119



Internal ID18384679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49908397..49908782hg38UCSC Ensembl
Outerchr22:49908319..49908810hg38UCSC Ensembl
Innerchr22:50302045..50302430hg19UCSC Ensembl
Outerchr22:50301967..50302458hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558372
Supporting Variants
Samples
Known GenesALG12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757119
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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