A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2726835

Internal ID9961143
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2019561..2959568hg38UCSC Ensembl
Outerchr4:2021288..2961295hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670134, essv6910759, essv6829654, essv6947226, essv6711290, essv6748311, essv6770252, essv6962721, essv6892957, essv6813801, essv6833246, essv6742669, essv6785785, essv6934069, essv6748312, essv6674343, essv6813802, essv6726547, essv6951323, essv6667244, essv6726548, essv6844468, essv6794060, essv6844467, essv6714959, essv6767062, essv6670131, essv6833245, essv6817441, essv6942657, essv6667245, essv6748310, essv6730318, essv6739449, essv6955991, essv6973709, essv6869252, essv6821854, essv6821843, essv6821866, essv6845820, essv6693568, essv6899185, essv6711289, essv6850187, essv6679870, essv6825762, essv6751155, essv6759579, essv6689902, essv6707892, essv6745472, essv6802149, essv6836861, essv6751152, essv6790499, essv6825763, essv6973708, essv6789896, essv6882908, essv6878171, essv6736527, essv6675915, essv6929846, essv6704474, essv6781634, essv6817440, essv6821832, essv6854336, essv6810843, essv6670135, essv6880959, essv6962723, essv6807958, essv6914580, essv6929845, essv6926304, essv6955993, essv6860073, essv6722700, essv6896346, essv6840681, essv6899187, essv6869251, essv6833244, essv6718827, essv6686739, essv6955941, essv6854337, essv6697504, essv6704472, essv6886516, essv6764633, essv6848179, essv6697505, essv6704473, essv6724210, essv6807957, essv6903189, essv6810845, essv6955994, essv6922506, essv6764632, essv6767061, essv6840679, essv6926305, essv6670133, essv6751151, essv6829655, essv6962720, essv6848178, essv6892955, essv6755098, essv6785786, essv6860072, essv6872278, essv6938403, essv6724199, essv6802150, essv6845709, essv6922509, essv6889633, essv6700418, essv6707893, essv6770254, essv6962722, essv6914579, essv6667242, essv6730319, essv6739448, essv6751150, essv6913151, essv6922907, essv6938404, essv6882919, essv6938402, essv6910758, essv6955952, essv6968725, essv6798234, essv6693570, essv6922507, essv6962719, essv6764630, essv6804980, essv6883781, essv6683437, essv6754063, essv6850176, essv6968726, essv6781631, essv6840682, essv6955992, essv6693569, essv6912929, essv6947228, essv6926303, essv6922896, essv6829656, essv6774111, essv6906858, essv6767063, essv6821864, essv6714958, essv6934068, essv6755087, essv6929847, essv6670136, essv6934070, essv6704471, essv6777624, essv6807956, essv6896345, essv6674332, essv6689903, essv6955963, essv6770255, essv6934071, essv6947227, essv6679869, essv6899186, essv6798235, essv6711287, essv6745473, essv6794061, essv6934067, essv6968723, essv6878172, essv6955990, essv6781633, essv6730317, essv6821867, essv6864849, essv6807955, essv6913040, essv6880958, essv6767064, essv6918176, essv6892956, essv6840680, essv6722699, essv6886517, essv6711291, essv6886515, essv6762272, essv6836862, essv6968724, essv6777623, essv6781630, essv6829657
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM081, SSM070, SSM080
Known GenesADD1, C4orf48, FAM193A, HAUS3, LOC402160, MFSD10, MIR4800, MXD4, NAT8L, NOP14, NOP14-AS1, POLN, RNF4, SH3BP2, TNIP2, ZFYVE28
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2726835
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer