A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732085



Internal ID9966403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52752080..52833441hg38UCSC Ensembl
Outerchr6:52616878..52698239hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3881362
hg1981362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939034, essv6884254, essv6869768, essv6888032, essv6795698, essv6969394, essv6687261, essv6907585, essv6782234, essv6684006, essv6743189, essv6719454, essv6678855, essv6855365, essv6955483, essv6708461, essv6708462, essv6951925, essv6687263, essv6890238, essv6907583, essv6778220, essv6730903, essv6798882, essv6730905, essv6794674, essv6872778, essv6761154, essv6855377, essv6805455, essv6805453, essv6794673, essv6903738, essv6671133, essv6808439, essv6849159, essv6865611, essv6930458, essv6730904, essv6923093, essv6833804, essv6896781, essv6872781, essv6680414, essv6855388, essv6855249, essv6918849, essv6678866, essv6947815, essv6676591, essv6907586, essv6963760, essv6676592, essv6790531, essv6911360, essv6671135, essv6786419, essv6926831, essv6687262, essv6770848, essv6694178, essv6719455, essv6961407, essv6684005, essv6915094, essv6934746, essv6705050, essv6974809, essv6715548, essv6729031, essv6918850, essv6774611, essv6811330, essv6822456, essv6947814, essv6676590, essv6802580, essv6727133, essv6891820, essv6841278, essv6723255, essv6887025, essv6818240, essv6814339, essv6875740, essv6701100, essv6715547, essv6875743, essv6690480, essv6723256, essv6767556, essv6757411, essv6878639, essv6711860, essv6822455, essv6844971, essv6955594, essv6961385, essv6881432, essv6963758, essv6872779, essv6697923, essv6888044, essv6934745, essv6767555, essv6774607, essv6830196, essv6957036, essv6961396, essv6690482, essv6899724, essv6884255, essv6943456, essv6957035, essv6890237, essv6943457, essv6711861, essv6899725, essv6774608, essv6969395, essv6711862, essv6926829, essv6727134, essv6896782, essv6893551, essv6743190, essv6765036, essv6802581, essv6957037, essv6837451, essv6844970, essv6893550, essv6951926, essv6878638, essv6837452, essv6860888, essv6872780, essv6808440, essv6918848, essv6841279, essv6794672, essv6703943, essv6814340, essv6715549, essv6760051, essv6826431, essv6826209, essv6694179, essv6748762, essv6837450, essv6878637, essv6694180, essv6701098, essv6891709, essv6678844, essv6888055, essv6903739, essv6778222, essv6790533, essv6671134, essv6841277, essv6930459, essv6736970, essv6963759, essv6928795, essv6690483, essv6754556, essv6761142, essv6811329, essv6761131, essv6808441, essv6911361, essv6703932, essv6923094, essv6680413, essv6711859, essv6875741, essv6719456, essv6830194, essv6855250, essv6974808, essv6915093, essv6795710, essv6798883, essv6811331, essv6865612, essv6955372, essv6844969, essv6939033, essv6774610, essv6826220, essv6830195, essv6849160, essv6690481, essv6899723, essv6951924, essv6881433, essv6705049, essv6745949, essv6887026, essv6826430, essv6786420, essv6794671, essv6855251, essv6888021, essv6729020, essv6727135
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesGSTA1, GSTA2, GSTA5
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)esv2732085
Frequency
Sample Size96
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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