A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv325e201



Internal ID22759683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3469159..3469437hg38UCSC Ensembl
chr16:3519159..3519437hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750403, esv2750405
SamplesSSM075, SSM065, SSM073, SSM093, SSM026, SSM019, SSM040, SSM020, SSM007, SSM016, SSM077, SSM043
Known GenesNAA60
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv325e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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