A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721704



Internal ID10305340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236378769..236380007hg38UCSC Ensembl
Outerchr2:237287412..237288650hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704258, essv6968464, essv6829597, essv6807761, essv6853967, essv6946980, essv6880762, essv6801969, essv6697334, essv6954017, essv6844271, essv6929591, essv6789655, essv6920917, essv6902975, essv6693307, essv6689695, essv6675672, essv6722452, essv6883601, essv6869082, essv6933808, essv6872089, essv6785517, essv6906615, essv6788554, essv6955571, essv6813569, essv6752842, essv6898996, essv6962332, essv6892744, essv6773883, essv6848165, essv6942354, essv6748135, essv6762125, essv6906614, essv6711046, essv6764482, essv6733799, essv6833024, essv6669748, essv6926092, essv6914378, essv6766879, essv6880854, essv6700141, essv6797966, essv6793788, essv6698622, essv6810679, essv6745292, essv6864556, essv6781386, essv6672710, essv6756864, essv6938153, essv6742504, essv6686550, essv6804786, essv6821644, essv6896172, essv6847785, essv6973252, essv6859772, essv6856375, essv6707682, essv6917925, essv6736350, essv6683241, essv6829441, essv6840440, essv6750961, essv6777401, essv6817159, essv6722399, essv6753881, essv6714701, essv6718606, essv6739245, essv6730063, essv6951042, essv6878005, essv6875077, essv6910535, essv6820087, essv6726307, essv6922240, essv6770007, essv6679635, essv6836636, essv6889430
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesIQCA1
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)esv2721704
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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