A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714214



Internal ID10297850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32513362..32513969hg38UCSC Ensembl
Outerchr16:32524683..32525290hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766060, essv6673985, essv6768891, essv6863006, essv6960140, essv6898011, essv6772580, essv6820293, essv6971356, essv6812588, essv6901003, essv6709903, essv6867794, essv6858005, essv6960141, essv6932389, essv6721174, essv6885406, essv6945523, essv6882696, essv6806761, essv6846350, essv6916580, essv6895096, essv6905380, essv6699091, essv6940861, essv6812589, essv6936690, essv6828214, essv6800749, essv6928344, essv6870231, essv6831798, essv6888387, essv6779952, essv6738243, essv6924860, essv6792361, essv6724961, essv6742098, essv6852015, essv6949609, essv6943062, essv6975495, essv6678323, essv6916579, essv6831796, essv6702963, essv6732622, essv6685508, essv6909361, essv6858006, essv6717300, essv6696093, essv6665502, essv6692015, essv6879839, essv6913087, essv6688681, essv6835346, essv6776170, essv6784084
SamplesSSM100, SSM036, SSM024, SSM045, SSM011, SSM064, SSM065, SSM087, SSM038, SSM039, SSM013, SSM093, SSM050, SSM074, SSM088, SSM041, SSM023, SSM028, SSM021, SSM047, SSM018, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM080, SSM037, SSM076, SSM022, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM098, SSM063
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)esv2714214
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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