A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556652



Internal ID18757728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55530482..55530752hg38UCSC Ensembl
Outerchr19:55530440..55530821hg38UCSC Ensembl
Innerchr19:56041849..56042119hg19UCSC Ensembl
Outerchr19:56041807..56042188hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230e215
Supporting Variantsessv9755399
Samples
Known GenesSBK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556652
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