A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725992



Internal ID10309628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141665735..141666153hg38UCSC Ensembl
Outerchr3:141384577..141384995hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726453, essv6955306, essv6903101, essv6854207, essv6929744, essv6762219, essv6973563, essv6693470, essv6753992, essv6807877, essv6774025, essv6859961, essv6910676, essv6704384, essv6880891, essv6751080, essv6739374, essv6718740, essv6942537, essv6922106, essv6675824, essv6766988, essv6770155, essv6810782, essv6829580, essv6722611, essv6938308, essv6922410, essv6777528, essv6686662, essv6711206, essv6683364, essv6906775, essv6781534, essv6883715, essv6955846, essv6869184, essv6848056, essv6802080, essv6756952, essv6748237, essv6821779, essv6700326, essv6793961, essv6962563, essv6878114, essv6707818, essv6840578, essv6733899, essv6833160, essv6798119, essv6669995, essv6836759, essv6951221, essv6714858, essv6764582, essv6849453, essv6889557, essv6804914, essv6864749, essv6745389, essv6899109, essv6968627, essv6813717, essv6785683, essv6742606, essv6892874
SamplesSSM100, SSM059, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM053, SSM037, SSM077, SSM076, SSM022, SSM055, SSM095, SSM025, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049, SSM056, 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)esv2725992
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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