A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724792



Internal ID9959094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2263817..2270758hg38UCSC Ensembl
Outerchr3:2305501..2312442hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386942
hg196942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698822, essv6797992, essv6864594, essv6764501, essv6878021, essv6854013, essv6770044, essv6922265, essv6707699, essv6903000, essv6848287, essv6921062, essv6704282, essv6844301, essv6889450, essv6829468, essv6955622, essv6954250, essv6951079, essv6817182, essv6910569, essv6825533, essv6788744, essv6880782, essv6929625, essv6689715, essv6759424, essv6896195, essv6750981, essv6833047, essv6801986, essv6875093, essv6730092, essv6686560, essv6836660, essv6883619, essv6947008, essv6773913, essv6872102, essv6686561, essv6813595, essv6722599, essv6906641, essv6683253, essv6793818, essv6933842, essv6766902, essv6899016, essv6675695, essv6810690, essv6672854, essv6748149, essv6722479, essv6736363, essv6785550, essv6804803, essv6914403, essv6840466, essv6807773, essv6973316, essv6693340, essv6859800, essv6889449, essv6711073, essv6700171, essv6714737, essv6667142, essv6886340
SamplesSSM065, SSM007, SSM092, SSM013, SSM082, SSM006, SSM036, SSM091, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM064, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM032, SSM039, SSM024, SSM045, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM093, SSM100, SSM056, SSM085, SSM009, SSM011, SSM066, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM063, SSM087, SSM096, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM018, SSM076, SSM081, SSM080
Known GenesCNTN4
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)esv2724792
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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