A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756942



Internal ID18731188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42702655..42703012hg38UCSC Ensembl
Outerchr22:42702601..42703030hg38UCSC Ensembl
Innerchr22:43098661..43099018hg19UCSC Ensembl
Outerchr22:43098607..43099036hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558195
Supporting Variants
Samples
Known GenesA4GALT
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756942
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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