A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714794



Internal ID10298430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81866376..81866636hg38UCSC Ensembl
Outerchr16:81899981..81900241hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv375e201
Supporting Variantsessv6966737, essv6971448, essv6824216, essv6800862, essv6924913, essv6735550, essv6945616, essv6905463, essv6678418, essv6772657, essv6784200, essv6858097, essv6901849, essv6928433, essv6699145, essv6852122, essv6709974, essv6717382, essv6768947, essv6828301, essv6788370, essv6812646, essv6692096, essv6895181, essv6732727, essv6940970, essv6863090, essv6728872, essv6976128, essv6871154, essv6706730, essv6674122, essv6888472, essv6960267, essv6721275, essv6750066, essv6831874, essv6792456, essv6725068, essv6803916, essv6874091, essv6867886, essv6920813
SamplesSSM036, SSM027, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM073, SSM088, SSM041, SSM023, SSM028, SSM047, SSM018, SSM069, SSM096, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM044, SSM086, SSM068, SSM081, SSM040, SSM072, SSM080, SSM076, SSM022, SSM091, SSM070, SSM004, SSM043, SSM098, SSM049, SSM056, SSM012
Known GenesPLCG2
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)esv2714794
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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