A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714504



Internal ID10298140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:54626369..54626787hg38UCSC Ensembl
Outerchr16:54660281..54660699hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803896, essv6776855, essv6882751, essv6691021, essv6920789, essv6975973, essv6713498, essv6706703, essv6932476, essv6768927, essv6846383, essv6888449, essv6831854, essv6898034, essv6721252, essv6867860, essv6877095, essv6891746, essv6945592, essv6916661, essv6800836, essv6943395, essv6784175, essv6852085, essv6838599, essv6714277, essv6971420, essv6953845, essv6924889, essv6870954, essv6936774, essv6692075, essv6895166, essv6911952, essv6696147, essv6761354, essv6728850, essv6885449, essv6678398, essv6812627, essv6810399, essv6913166, essv6863061, essv6788348, essv6839206, essv6725044, essv6905439, essv6843029, essv6871157, essv6824190, essv6806790, essv6809808, essv6682096, essv6665573, essv6755969, essv6744395, essv6928411, essv6709956, essv6699125, essv6901046, essv6735530, essv6820322, essv6815936
SamplesSSM100, SSM036, SSM008, SSM083, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM038, SSM097, SSM013, SSM009, SSM073, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM061, SSM029, SSM096, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM044, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM010, SSM095, SSM025, SSM004, SSM099, SSM098, SSM049
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)esv2714504
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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