A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv193e215



Internal ID22785703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83025140..83025684hg38UCSC Ensembl
chr17:80983016..80983560hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3554923, esv3554921
Samples
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv193e215
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