A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv384e201



Internal ID20125271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89341555..89342332hg38UCSC Ensembl
chr16:89407963..89408740hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715149, esv2715147
SamplesSSM065, SSM092, SSM086, SSM033, SSM099, SSM089, SSM090, SSM071, SSM039, SSM045, SSM067, SSM062, SSM012, SSM017, SSM066, SSM047, SSM021, SSM037, SSM015, SSM008, SSM059
Known GenesANKRD11
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)dgv384e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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