A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2724792

Internal ID9959094
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2263817..2270758hg38UCSC Ensembl
Outerchr3:2305501..2312442hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2724792
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0

Hosted by The Centre for Applied Genomics
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