A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750394



Internal ID9984678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3066540..3067561hg38UCSC Ensembl
Outerchr16:3116541..3117562hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920711, essv6960086, essv6895070, essv6924823, essv6738227, essv6862963, essv6877035, essv6851958, essv6758546, essv6665446, essv6776140, essv6735490, essv6772550, essv6936654, essv6838109, essv6966557, essv6755927, essv6831772, essv6776378, essv6761316, essv6869909, essv6768858, essv6809747, essv6901758, essv6820256
SamplesSSM059, SSM008, SSM027, SSM075, SSM011, SSM064, SSM065, SSM050, SSM088, SSM058, SSM092, SSM021, SSM018, SSM061, SSM029, SSM026, SSM017, SSM086, SSM066, SSM081, SSM078, SSM010, SSM098, SSM049, SSM012
Known GenesIL32
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)esv2750394
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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