A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555478



Internal ID18756554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41548914..41554054hg38UCSC Ensembl
Outerchr2:41548361..41554360hg38UCSC Ensembl
Innerchr2:41776054..41781194hg19UCSC Ensembl
Outerchr2:41775501..41781500hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754225
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555478
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