A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731776



Internal ID9966094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29917197..30009755hg38UCSC Ensembl
Outerchr6:29884974..29977532hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3892559
hg1992559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv993e201
Supporting Variantsessv6837388, essv6790448, essv6844846, essv6890172, essv6715445, essv6759965, essv6930388, essv6837386, essv6683956, essv6911278, essv6915021, essv6837392, essv6701001, essv6896741, essv6837395, essv6849056, essv6680338, essv6949928, essv6893483, essv6782134, essv6770755, essv6687205, essv6915022, essv6694103, essv6764957, essv6950151, essv6918715, essv6770754, essv6764963, essv6808349, essv6728220, essv6860766, essv6844866, essv6719347, essv6974701, essv6963643, essv6918714, essv6884169, essv6890171, essv6880820, essv6728031, essv6818163, essv6708372, essv6690368, essv6926730, essv6715466, essv6786329, essv6759979, essv6798779, essv6869655, essv6911269, essv6938931, essv6748689, essv6974698, essv6841202, essv6711786, essv6887611, essv6881352, essv6762578, essv6837401, essv6680339, essv6687204, essv6794643, essv6808346, essv6790447, essv6943334, essv6802538, essv6677866, essv6918689, essv6703277, essv6782130, essv6837385, essv6947737, essv6687199, essv6878577, essv6865533, essv6907479, essv6938935, essv6837400, essv6764958, essv6830124, essv6794432, essv6794576, essv6711783, essv6677888, essv6896737, essv6974699, essv6736926, essv6911289, essv6728287, essv6811245, essv6719348, essv6802537, essv6708373, essv6875649, essv6708377, essv6677810, essv6814256, essv6728209, essv6974704, essv6899637, essv6869649, essv6690369, essv6683953, essv6893474, essv6934647, essv6818152, essv6872669, essv6872668, essv6943337, essv6943324, essv6818157, essv6697891, essv6960062, essv6884164, essv6802530, essv6825499, essv6926732, essv6844868, essv6907474, essv6739935, essv6770746, essv6808348, essv6711788, essv6723170, essv6730839, essv6949262, essv6794602, essv6963645, essv6833712, essv6687206, essv6811262, essv6899638, essv6911292, essv6844853, essv6923004, essv6849058, essv6677822, essv6930382, essv6881708, essv6703310, essv6739936, essv6923009, essv6854976, essv6927773, essv6778122, essv6899640, essv6948484, essv6951826, essv6923010, essv6934646, essv6890176, essv6841207, essv6833713, essv6893475, essv6778123, essv6790463, essv6918698, essv6802524, essv6947706, essv6794488, essv6708379, essv6762579, essv6728231, essv6849057, essv6887588, essv6671040, essv6841189, essv6963644, essv6860767, essv6730829, essv6860752, essv6943321, essv6759983, essv6719346, essv6893482, essv6869651, essv6911279, essv6860763, essv6938934, essv6963649, essv6760020, essv6927751, essv6767465, essv6826327, essv6927762, essv6896749, essv6903679, essv6694104, essv6974702, essv6860765, essv6825488, essv6697893, essv6943335, essv6879931, essv6872673, essv6884170, essv6844869, essv6865529, essv6798780, essv6947738, essv6943323, essv6893484, essv6918719, essv6878573, essv6849048, essv6918696, essv6680341, essv6956921, essv6697892, essv6715451, essv6751549, essv6869645, essv6974703, essv6704936, essv6770751, essv6730834, essv6704926, essv6736930, essv6704935, essv6865528, essv6745907, essv6818158, essv6745908, essv6903677, essv6899635, essv6915020, essv6671041, essv6923011, essv6947736, essv6927684, essv6822400, essv6704934, essv6938936, essv6880931, essv6697886, essv6938930, essv6770767, essv6826328, essv6774557, essv6951824, essv6782133, essv6822401, essv6802525, essv6886967, essv6811263, essv6770768, essv6887622, essv6918717, essv6833714, essv6907476, essv6833711, essv6711784, essv6790464, essv6830127, essv6694102, essv6825510, essv6715452, essv6956920, essv6728298, essv6938924, essv6676486, essv6903686, essv6808345, essv6884166, essv6837396, essv6926731, essv6739939, essv6893485, essv6778120, essv6715464, essv6875650, essv6683955, essv6782131, essv6790461, essv6745903, essv6849055, essv6743100, essv6923012, essv6896748, essv6687203, essv6907475, essv6798775, essv6811256, essv6855157, essv6896736, essv6830125, essv6701000, essv6948595, essv6697890, essv6855156, essv6869648, essv6911303, essv6893460, essv6854965, essv6899634, essv6790462, essv6708378, essv6896738, essv6837384, essv6911304, essv6760031, essv6969298, essv6730833, essv6896747, essv6736929, essv6811255, essv6825565, essv6743107, essv6943336, essv6943316, essv6872670, essv6890169, essv6762592, essv6841191, essv6849049, essv6683957, essv6700998, essv6849059
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, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesHCG4B, HCG9, HLA-A, HLA-J, ZNRD1-AS1
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)esv2731776
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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