A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557791



Internal ID18412181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43739501..43740842hg38UCSC Ensembl
Outerchr21:43739262..43741010hg38UCSC Ensembl
Innerchr21:45159382..45160723hg19UCSC Ensembl
Outerchr21:45159143..45160891hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381749
hg191749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756538
Samples
Known GenesPDXK
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557791
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