A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731772



Internal ID3282268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29766249..29898501hg38UCSC Ensembl
Outerchr6:29734026..29866278hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38132253
hg19132253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872663, essv6770743, essv6907470, essv6911272, essv6739930, essv6943293, essv6751544, essv6728131, essv6754471, essv6974686, essv6794410, essv6774555, essv6974689, essv6963632, essv6715442, essv6802519, essv6764949, essv6770730, essv6849035, essv6719341, essv6869630, essv6677722, essv6715446, essv6711770, essv6926726, essv6833703, essv6849036, essv6943296, essv6690366, essv6767459, essv6960040, essv6879820, essv6911274, essv6822394, essv6680328, essv6697882, essv6700992, essv6711779, essv6880153, essv6896725, essv6711772, essv6854943, essv6943294, essv6786324, essv6927562, essv6770749, essv6759977, essv6694100, essv6938925, essv6770735, essv6956916, essv6818148, essv6890153, essv6915012, essv6687191, essv6947151, essv6974692, essv6762572, essv6849034, essv6770740, essv6676481, essv6878563, essv6878560, essv6974688, essv6825432, essv6764954, essv6715447, essv6943299, essv6671039, essv6711771, essv6748685, essv6844848, essv6667513, essv6899631, essv6764948, essv6736923, essv6841186, essv6903667, essv6736917, essv6687189, essv6938919, essv6946818, essv6818150, essv6736915, essv6734302, essv6959973, essv6849045, essv6893458, essv6911271, essv6918683, essv6841188, essv6915014, essv6938921, essv6728087, essv6893450, essv6677733, essv6727987, essv6708366, essv6697878, essv6844841, essv6811241, essv6881350, essv6811244, essv6794465, essv6703232, essv6762574, essv6805353, essv6927607, essv6930384, essv6855141, essv6943298, essv6837367, essv6790442, essv6886965, essv6818149, essv6790450, essv6849033, essv6762581, essv6683949, essv6844856, essv6947734, essv6798769, essv6730810, essv6730811, essv6728020, essv6687188, essv6893449, essv6745900, essv6759920, essv6700995, essv6855144, essv6948373, essv6893452, essv6759987, essv6671037, essv6887566, essv6943297, essv6794399, essv6903672, essv6782123, essv6770739, essv6700993, essv6770748, essv6727998, essv6844844, essv6903668, essv6887533, essv6959995, essv6715441, essv6811249, essv6893447, essv6884156, essv6730815, essv6911265, essv6730827, essv6708358, essv6743098, essv6865522, essv6818151, essv6790441, essv6798771, essv6879709, essv6743094, essv6918682, essv6697879, essv6762573, essv6844847, essv6887511, essv6911276, essv6947733, essv6778117, essv6790446, essv6728009, essv6899627, essv6893448, essv6934642, essv6878571, essv6890156, essv6903675, essv6728142, essv6911266, essv6748682, essv6918688, essv6762582, essv6938918, essv6687192, essv6770737, essv6727976, essv6907472, essv6911273, essv6694096, essv6860747, essv6708356, essv6869628, essv6830122, essv6837378, essv6700996, essv6794454, essv6841185, essv6896726, essv6764947, essv6943291, essv6927618, essv6770733, essv6943308, essv6927573, essv6774552, essv6896727, essv6890161, essv6770736, essv6893446, essv6947040, essv6764951, essv6896729, essv6730822, essv6875640, essv6918681, essv6844842, essv6770734, essv6703243, essv6922998, essv6770738, essv6822396, essv6697881, essv6951819, essv6890157, essv6869637, essv6956911, essv6860755, essv6878565, essv6860746, essv6687195, essv6708367, essv6899625, essv6680331, essv6844849, essv6745902, essv6826319, essv6926724, essv6786326, essv6878566, essv6896730, essv6903666, essv6963636, essv6837374, essv6808336, essv6677744, essv6911268, essv6715439, essv6730816, essv6833707, essv6946929, essv6690361, essv6697877, essv6727059, essv6841194, essv6974687, essv6884161, essv6711775, essv6683945, essv6730814, essv6715448, essv6837380, essv6811242, essv6704925, essv6886962, essv6734303, essv6947484, essv6837362, essv6884157, essv6762583, essv6727055, essv6890152, essv6677755, essv6754470, essv6879597, essv6794592, essv6872662, essv6959962, essv6833705, essv6808334, essv6855143, essv6844851, essv6865519, essv6943300, essv6759954, essv6963631, essv6739927, essv6676479, essv6715440, essv6911277, essv6849040, essv6837363, essv6802520, essv6903671, essv6767462, essv6837366, essv6884158, essv6743093, essv6943292, essv6808337, essv6911260, essv6704929, essv6690362, essv6844850, essv6730809, essv6943302, essv6963633, essv6743090, essv6869633, essv6687196, essv6943301, essv6739928, essv6881347, essv6849039, essv6946706, essv6782126, essv6743095, essv6869629
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, SSM057, SSM001, SSM032, SSM039, SSM024, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, 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, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM081, SSM070, SSM080
Known GenesHCG4, HLA-G, HLA-H, LOC554223
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)esv2731772
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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