A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780695



Internal ID18821615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54037873hg38UCSC Ensembl
Innerchr20:52647823..52654412hg19UCSC Ensembl
Innerchr20:52081230..52087819hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386590
hg196590
hg186590
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893347
Supporting Variants
Samples
Known GenesBCAS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780695
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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