A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558228



Internal ID18412618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739491..44741595hg38UCSC Ensembl
Outerchr22:44739355..44741802hg38UCSC Ensembl
Innerchr22:45135371..45137475hg19UCSC Ensembl
Outerchr22:45135235..45137682hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756975
Samples
Known GenesPRR5-ARHGAP8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558228
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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