A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545404



Internal ID18746480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:120417179..120417335hg38UCSC Ensembl
Outerchr9:120417174..120417338hg38UCSC Ensembl
Innerchr9:123179457..123179613hg19UCSC Ensembl
Outerchr9:123179452..123179616hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744151
Samples
Known GenesCDK5RAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545404
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