A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9754749



Internal ID18382309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9163884..9173368hg38UCSC Ensembl
Outerchr19:9162303..9174346hg38UCSC Ensembl
Innerchr19:9274560..9284044hg19UCSC Ensembl
Outerchr19:9272979..9285022hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3812044
hg1912044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3556002
Supporting Variants
Samples
Known GenesZNF317
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9754749
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