A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv241e215



Internal ID20151280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54466306..54466660hg38UCSC Ensembl
chr2:54693443..54693797hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3556966, esv3556955
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv241e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer