A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560471



Internal ID18414861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33008515..33012790hg38UCSC Ensembl
Outerchr1:33008151..33013272hg38UCSC Ensembl
Innerchr1:33474116..33478391hg19UCSC Ensembl
Outerchr1:33473752..33478873hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385122
hg195122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759218
Samples
Known GenesAK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560471
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