A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724793



Internal ID9959095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2269898..2270323hg38UCSC Ensembl
Outerchr3:2311582..2312007hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38426
hg19426
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, essv6836660, essv6883619, essv6947008, essv6773913, essv6872102, essv6686561, essv6813595, essv6722599, essv6906641, essv6683253, essv6793818, essv6933842, essv6766902, essv6899016, essv6675695, essv6810690, essv6672854, essv6748149, essv6722479, essv6785550, essv6804803, essv6914403, essv6840466, essv6807773, essv6973316, essv6859800, essv6711073, essv6700171, essv6714737, essv6667142
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, SSM097, SSM041, SSM077, SSM005, SSM093, SSM100, SSM056, SSM085, SSM009, SSM011, SSM066, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM034, SSM063, SSM087, 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)esv2724793
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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