A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561504



Internal ID18415894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44577955..44578052hg38UCSC Ensembl
Outerchr1:44577948..44578068hg38UCSC Ensembl
Innerchr1:45043627..45043724hg19UCSC Ensembl
Outerchr1:45043620..45043740hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760251
Samples
Known GenesRNF220
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561504
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