A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714209



Internal ID10297845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32484263..32486445hg38UCSC Ensembl
Outerchr16:32495584..32497766hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382183
hg192183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690576, essv6744371, essv6800747, essv6928342, essv6699089, essv6766061, essv6772581, essv6838342, essv6758567, essv6692014, essv6932388, essv6665503, essv6709902, essv6696097, essv6796536, essv6891690, essv6905379, essv6763694, essv6717297, essv6761340, essv6755950, essv6895095, essv6867792, essv6966601, essv6871105, essv6688680, essv6901787, essv6776169, essv6738244, essv6858003, essv6898010, essv6960138, essv6913086, essv6940859, essv6685505, essv6792360, essv6846349, essv6820295, essv6971355, essv6870220, essv6936689, essv6888385, essv6815873, essv6882695, essv6741516, essv6885405, essv6916578, essv6828213, essv6810132, essv6668470, essv6714120, essv6874043, essv6702962, essv6924857, essv6776677, essv6742087, essv6732620, essv6911719, essv6803859, essv6724960, essv6835344, essv6706650, essv6812585, essv6768890, essv6863005, essv6909358, essv6751931, essv6949606, essv6943051, essv6877071, essv6879838, essv6678322, essv6721173, essv6806759, essv6975472, essv6809767, essv6673984
SamplesSSM059, SSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM002, SSM041, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM066, SSM006, SSM085, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM030, SSM063, SSM012
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)esv2714209
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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