A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727292



Internal ID10310928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23098654..23099841hg38UCSC Ensembl
Outerchr4:23100277..23101464hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880985, essv6825791, essv6794105, essv6762294, essv6962783, essv6956064, essv6764656, essv6836903, essv6850509, essv6679901, essv6903220, essv6914624, essv6785829, essv6968774, essv6844496, essv6670193, essv6742696, essv6777658, essv6929898, essv6724488, essv6938448, essv6711327, essv6833279, essv6910807, essv6736556, essv6689935, essv6956240, essv6683467, essv6805008, essv6726584, essv6875283, essv6973774, essv6848233, essv6759613, essv6722736, essv6942700, essv6872300, essv6817484, essv6745501, essv6807983, essv6951365, essv6896378, essv6899214, essv6922549, essv6854398, essv6847820, essv6821900, essv6790833, essv6892983, essv6829688, essv6934124, essv6923296, essv6707918, essv6704504, essv6810868, essv6914929, essv6926341, essv6798275, essv6770291, essv6947270, essv6693616, essv6918211, essv6757026, essv6718858, essv6700354, essv6751184, essv6730359, essv6822099, essv6674565, essv6860113, essv6864895, essv6697537, essv6789943, essv6886546, essv6781673, essv6733989, essv6840721, essv6714994, essv6767099, essv6754093, essv6774144, essv6802168, essv6675951, essv6883803, essv6883320, essv6813835, essv6869281
SamplesSSM100, SSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM063, SSM012
Known Genes
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)esv2727292
Frequency
Sample Size96
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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