A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558039



Internal ID18412429
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 StatusM
Merged Variants
Supporting Variantsessv9756786
Samples
Known GenesCCDC117
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558039
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer