A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756994



Internal ID18731240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45568613..45568800hg38UCSC Ensembl
Outerchr22:45568578..45568829hg38UCSC Ensembl
Innerchr22:45964493..45964680hg19UCSC Ensembl
Outerchr22:45964458..45964709hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558247
Supporting Variants
Samples
Known GenesFBLN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756994
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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