A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750293



Internal ID18724539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50942181..50942693hg38UCSC Ensembl
Outerchr14:50942097..50942815hg38UCSC Ensembl
Innerchr14:51408899..51409411hg19UCSC Ensembl
Outerchr14:51408815..51409533hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551546
Supporting Variants
Samples
Known GenesPYGL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750293
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