A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560555



Internal ID18414945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173024209..173024463hg38UCSC Ensembl
Outerchr2:173024184..173024528hg38UCSC Ensembl
Innerchr2:173888937..173889191hg19UCSC Ensembl
Outerchr2:173888912..173889256hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759302
Samples
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560555
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