A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714427



Internal ID10298063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46415535..46418168hg38UCSC Ensembl
Outerchr16:46449447..46452080hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg382634
hg192634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690955, essv6885441, essv6960202, essv6936761, essv6882717, essv6678387, essv6665528, essv6828267, essv6768922, essv6863045, essv6824182, essv6732693, essv6909425, essv6852071, essv6812622, essv6966671, essv6867847, essv6916648, essv6688742, essv6788330, essv6949679, essv6820308, essv6888441, essv6870898, essv6682083, essv6706690, essv6674060
SamplesSSM027, SSM024, SSM011, SSM064, SSM079, SSM088, SSM021, SSM047, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM033, SSM040, SSM078, SSM016, SSM005, SSM080, SSM076, SSM095
Known Genes
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)esv2714427
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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