A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762148



Internal ID18389708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9950730..9950913hg38UCSC Ensembl
Outerchr4:9950677..9950952hg38UCSC Ensembl
Innerchr4:9952354..9952537hg19UCSC Ensembl
Outerchr4:9952301..9952576hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563401
Supporting Variants
Samples
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762148
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