A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731820



Internal ID9966138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31263212..31353951hg38UCSC Ensembl
Outerchr6:31230989..31321728hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3890740
hg1990740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv996e201
Supporting Variantsessv6751555, essv6907486, essv6882930, essv6869666, essv6770771, essv6676496, essv6676497, essv6974717, essv6711799, essv6786340, essv6739949, essv6697899, essv6869668, essv6934656, essv6855162, essv6969308, essv6790467, essv6748697, essv6759992, essv6711800, essv6960251, essv6671060, essv6671049, essv6881363, essv6794616, essv6963656, essv6860781, essv6794608, essv6825621, essv6855164, essv6938944, essv6926744, essv6896755, essv6739945, essv6960263, essv6865544, essv6947756, essv6798787, essv6915026, essv6849068, essv6770777, essv6974715, essv6883042, essv6951831, essv6896753, essv6723171, essv6786335, essv6887711, essv6805366, essv6723179, essv6855043, essv6943342, essv6872682, essv6794776, essv6969306, essv6833718, essv6723178, essv6704948, essv6759989, essv6926745, essv6833723, essv6767473, essv6951833, essv6790468, essv6890181, essv6811274, essv6956932, essv6911312, essv6734313, essv6704947, essv6687213, essv6778128, essv6727064, essv6667517, essv6844883, essv6923019, essv6907490, essv6849069, essv6683963, essv6881366, essv6757363, essv6860776, essv6736939, essv6814263, essv6903697, essv6770778, essv6728364, essv6727073, essv6833724, essv6704942, essv6805368, essv6743115, essv6915033, essv6739951, essv6778130, essv6830133, essv6790469, essv6875656, essv6764968, essv6930390, essv6814264, essv6683967, essv6690378, essv6802542, essv6883264, essv6881361, essv6855163, essv6680353, essv6950928, essv6875659, essv6903695, essv6841216, essv6855031, essv6830134, essv6759988, essv6798783, essv6805367, essv6887733, essv6837411, essv6923017, essv6694116, essv6927829, essv6767474, essv6739952, essv6951832, essv6875660, essv6826339, essv6934650, essv6782139, essv6887722, essv6974716, essv6837405, essv6778129, essv6849070, essv6837412, essv6687211, essv6770776, essv6938945, essv6794765, essv6715481, essv6947755, essv6974719, essv6956931, essv6841215, essv6694113, essv6886976, essv6757362, essv6671059, essv6869667, essv6907487, essv6671058, essv6677988, essv6825632, essv6943348, essv6826337, essv6903689, essv6715480, essv6701008, essv6881365, essv6960229, essv6844884, essv6794617, essv6743117, essv6947753, essv6730851, essv6671057, essv6883153, essv6715477, essv6950817, essv6855166, essv6907491, essv6739950, essv6786339, essv6778131, essv6837410, essv6760131, essv6907488, essv6694114, essv6715478, essv6760176, essv6960240, essv6844879, essv6715479, essv6947750, essv6869661, essv6711797, essv6719362, essv6907489, essv6882819, essv6774563, essv6687214, essv6745912, essv6745913, essv6703365, essv6872680, essv6826340, essv6822407, essv6934655, essv6727074, essv6844882, essv6872681, essv6860780, essv6736938, essv6715482, essv6814262, essv6690379, essv6899648, essv6762603, essv6704949, essv6802546
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesHLA-B, HLA-C
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)esv2731820
Frequency
Sample Size96
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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