A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731791



Internal ID9966109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30404802..31346410hg38UCSC Ensembl
Outerchr6:30372579..31314187hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38941609
hg19941609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782138, essv6960106, essv6728320, essv6869658, essv6680345, essv6890180, essv6770770, essv6903688, essv6830129, essv6860772, essv6697897, essv6739941, essv6963654, essv6918722, essv6754477, essv6855009, essv6736937, essv6715472, essv6887666, essv6872674, essv6794665, essv6727063, essv6826330, essv6683961, essv6786333, essv6884174, essv6855158, essv6754475, essv6734311, essv6794605, essv6926739, essv6963652, essv6855159, essv6790471, essv6950373, essv6893492, essv6963655, essv6802539, essv6943346, essv6704940, essv6956926, essv6886970, essv6833720, essv6884173, essv6802541, essv6841212, essv6730846, essv6808354, essv6918727, essv6947748, essv6676490, essv6878582, essv6715468, essv6730847, essv6969301, essv6899645, essv6774562, essv6671050, essv6947746, essv6887655, essv6860771, essv6826332, essv6830128, essv6690375, essv6762594, essv6893494, essv6811271, essv6963653, essv6950595, essv6887688, essv6826334, essv6751551, essv6730844, essv6676492, essv6677966, essv6886969, essv6911307, essv6683959, essv6934649, essv6703343, essv6974710, essv6762596, essv6814260, essv6774558, essv6903687, essv6860768, essv6701006, essv6680344, essv6926737, essv6886973, essv6715471, essv6826333, essv6677955, essv6786332, essv6855161, essv6896752, essv6694112, essv6963650, essv6881356, essv6794687, essv6798781, essv6748693, essv6822403, essv6754478, essv6723175, essv6786334, essv6762595, essv6748692, essv6703332, essv6844871, essv6818167, essv6833717, essv6950484, essv6903692, essv6833716, essv6770769, essv6757359, essv6739942, essv6927806, essv6667516, essv6728309, essv6723173, essv6943344, essv6854998, essv6938939, essv6951830, essv6865537, essv6969302, essv6711793, essv6915024, essv6671048, essv6911310, essv6844873, essv6841214, essv6715470, essv6860770, essv6841210, essv6960128, essv6886971, essv6882042, essv6875651, essv6926733, essv6794721, essv6759985, essv6934654, essv6841211, essv6881931, essv6798782, essv6764965, essv6872677, essv6849063, essv6899642, essv6708382, essv6690373, essv6680346, essv6759986, essv6745911, essv6782136, essv6751552, essv6907481, essv6778124, essv6808352, essv6930389, essv6770773, essv6767470, essv6875652, essv6728342, essv6708383, essv6849064, essv6794609, essv6794604, essv6893490, essv6701007, essv6734312, essv6715469, essv6865536, essv6701005, essv6805361, essv6723172, essv6760109, essv6918721, essv6745910, essv6704938, essv6927795, essv6690371, essv6743112, essv6676491, essv6887644, essv6911306, essv6743109, essv6899646, essv6711791, essv6711790, essv6790473, essv6805362, essv6794676, essv6690372, essv6882264, essv6790472, essv6786337, essv6734309, essv6703321, essv6808356, essv6687208, essv6825576, essv6736935, essv6943343, essv6723174, essv6694108, essv6825587, essv6794607, essv6719354, essv6899644, essv6878579, essv6739944, essv6951827, essv6943341, essv6794654, essv6884177, essv6719352, essv6762599, essv6865535, essv6969304, essv6849066, essv6918723, essv6926734, essv6818168, essv6956924, essv6837404, essv6893491, essv6748691, essv6704939, essv6694106, essv6719351, essv6956925, essv6907480, essv6887633, essv6837403, essv6701004, essv6878581, essv6778126, essv6882153, essv6764966, essv6818169, essv6751550, essv6926735, essv6808357, essv6808355, essv6878580, essv6860769, essv6926736, essv6730845, essv6938943, essv6875655, essv6869660, essv6704937, essv6833715, essv6719357, essv6943340, essv6671045, essv6930394, essv6767467, essv6736936, essv6896751, essv6719356, essv6923013, essv6694110, essv6960139, essv6814258, essv6778125, essv6974712, essv6719355, essv6794698, essv6760120, essv6794613, essv6808351, essv6680347, essv6671046, essv6727066, essv6711792, essv6974709, essv6802540, essv6767468, essv6881358, essv6890179, essv6727062, essv6708380, essv6794606, essv6774559, essv6671047, essv6844875, essv6697896, essv6822405, essv6915025, essv6711789, essv6934651, essv6757360, essv6865538, essv6960117, essv6844872, essv6882375, essv6708381, essv6899641, essv6918724, essv6875654, essv6956928, essv6694107
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, SSM061, SSM029, SSM096, 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, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesABCF1, ATAT1, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GNL1, GTF2H4, HCG22, HCG27, HLA-C, HLA-E, IER3, MDC1, MIR4640, MIR877, MRPS18B, MUC21, MUC22, NRM, POU5F1, PPP1R10, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, SFTA2, TCF19, TUBB, VARS2
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)esv2731791
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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