A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566614



Internal ID18767690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101822810..101824013hg38UCSC Ensembl
Outerchr1:101822786..101824042hg38UCSC Ensembl
Innerchr1:102288366..102289569hg19UCSC Ensembl
Outerchr1:102288342..102289598hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381257
hg191257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765361
Samples
Known GenesOLFM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566614
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