A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9745746



Internal ID18719992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220112152..220112388hg38UCSC Ensembl
Outerchr1:220112086..220112466hg38UCSC Ensembl
Innerchr1:220285494..220285730hg19UCSC Ensembl
Outerchr1:220285428..220285808hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3546999
Supporting Variants
Samples
Known GenesIARS2, RNU5F-1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9745746
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