A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728686



Internal ID10312322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:165081463..165083962hg38UCSC Ensembl
Outerchr4:166002615..166005114hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767233, essv6805135, essv6757141, essv6956354, essv6759737, essv6730519, essv6869421, essv6739633, essv6865138, essv6817731, essv6957607, essv6829828, essv6918367, essv6869419, essv6926706, essv6878332, essv6754220, essv6884853, essv6764762, essv6693781, essv6896501, essv6837073, essv6811013, essv6794295, essv6942927, essv6700633, essv6859709, essv6883928, essv6875410, essv6676151, essv6690098, essv6742832, essv6792044, essv6715136, essv6926488, essv6865139, essv6722894, essv6777801, essv6840879, essv6786013, essv6813992, essv6719045, essv6802295, essv6833441, essv6968950, essv6860356, essv6701343, essv6757031, essv6934289, essv6938614, essv6675776, essv6823221, essv6736669, essv6889853, essv6745646, essv6683659, essv6951516, essv6854649, essv6748456, essv6704670, essv6844625, essv6734103, essv6910944, essv6872444, essv6762396, essv6790134, essv6947438, essv6711497, essv6914764, essv6903389, essv6852265, essv6670511, essv6774283, essv6686924, essv6667350, essv6770421, essv6826006, essv6781840, essv6680057, essv6751307, essv6725721, essv6726769, essv6848526, essv6930069, essv6974086, essv6922710, essv6893140, essv6798463, essv6963065, essv6924841
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, 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, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesTMEM192
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)esv2728686
Frequency
Sample Size96
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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