A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756786



Internal ID18384346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28781394..28781642hg38UCSC Ensembl
Outerchr22:28781273..28781710hg38UCSC Ensembl
Innerchr22:29177382..29177630hg19UCSC Ensembl
Outerchr22:29177261..29177698hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558039
Supporting Variants
Samples
Known GenesCCDC117
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756786
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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