A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734221



Internal ID9968548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32621750..35008557hg38UCSC Ensembl
Outerchr7:32661362..35048169hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg382386808
hg192386808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1080e201
Supporting Variantsessv6705187, essv6757558, essv6856876, essv6963317, essv6952152, essv6865852, essv6715764, essv6687441, essv6893731, essv6869949, essv6865855, essv6684200, essv6881592, essv6694441, essv6907803, essv6861137, essv6684203, essv6826640, essv6923294, essv6727346, essv6948051, essv6975210, essv6957422, essv6794903, essv6869951, essv6743336, essv6915264, essv6762776, essv6698069, essv6671467, essv6855580, essv6849483, essv6731110, essv6907802, essv6827698, essv6948054, essv6830386, essv6767726, essv6687440, essv6855581, essv6771060, essv6923291, essv6797587, essv6935010, essv6849481, essv6698070, essv6680613, essv6915261, essv6757557, essv6740207, essv6684202, essv6680616, essv6927027, essv6727345, essv6671473, essv6893733, essv6799107, essv6680615, essv6671469, essv6878774, essv6856865, essv6890392, essv6814542, essv6680510, essv6975218, essv6712065, essv6899875, essv6786653, essv6875916, essv6757556, essv6734520, essv6969484, essv6811485, essv6748919, essv6855586, essv6737147, essv6680614, essv6919099, essv6865856, essv6797610, essv6808601, essv6861136, essv6684201, essv6762931, essv6865857, essv6849489, essv6818499, essv6811483, essv6969595, essv6845146, essv6969634, essv6808604, essv6743335, essv6705198, essv6737144, essv6930699, essv6730442, essv6727344, essv6805630, essv6740210, essv6935006, essv6896914, essv6884406, essv6698071, essv6680499, essv6778438, essv6818496, essv6687438, essv6948053, essv6830385, essv6969373, essv6757555, essv6890391, essv6849485, essv6723473, essv6930684, essv6939271, essv6799108, essv6731107, essv6690693, essv6684205, essv6782458, essv6698068, essv6855584, essv6694446, essv6765165, essv6694445, essv6740206, essv6878777, essv6861143, essv6786652, essv6890394, essv6899873, essv6730431, essv6907800, essv6802740, essv6943702, essv6671474, essv6849488, essv6865859, essv6805628, essv6684204, essv6855575, essv6861138, essv6762919, essv6671464, essv6786650, essv6943701, essv6687439, essv6887183, essv6935009, essv6861141, essv6865858, essv6849484, essv6943704, essv6701342, essv6896916, essv6855577, essv6939272, essv6919098, essv6896915, essv6869950, essv6975212, essv6952153, essv6833996, essv6805629, essv6705245, essv6712067, essv6731108, essv6957419, essv6712064, essv6671472, essv6887185, essv6963306, essv6782456, essv6935011, essv6927026, essv6964118, essv6715763, essv6826641, essv6834000, essv6964123, essv6805631, essv6872949, essv6952155, essv6833999, essv6872948, essv6975214, essv6794899, essv6719649, essv6841467, essv6794904, essv6778439, essv6754734, essv6964122, essv6855579, essv6746106, essv6808602, essv6767728, essv6861140, essv6740211, essv6837667, essv6975216, essv6881593, essv6963339, essv6957421, essv6743338, essv6694444, essv6964120, essv6939270, essv6818502, essv6861144, essv6782457, essv6964121, essv6822652, essv6767727, essv6723474, essv6855578, essv6740208, essv6957420, essv6746107, essv6849482, essv6765163, essv6708636, essv6794900, essv6875918, essv6799109, essv6797599, essv6743334, essv6818500, essv6837666, essv6964116, essv6901941, essv6855583, essv6757559, essv6671466, essv6903937, essv6671471, essv6927025, essv6878775, essv6845147, essv6715762, essv6964119, essv6794901, essv6811484, essv6869948, essv6833997, essv6943703, essv6890393, essv6786655, essv6737145, essv6907804, essv6887184, essv6760218, essv6911578, essv6899874, essv6930697, essv6957423, essv6743337, essv6963328, essv6935008, essv6786651, essv6957424, essv6723477, essv6762908, essv6957426, essv6930698, essv6671470, essv6841468, essv6790755, essv6734519, essv6830388, essv6762774, essv6719651, essv6889910, essv6903936, essv6878778, essv6865853, essv6849480, essv6694442, essv6690694, essv6671468, essv6814544, essv6771061, essv6869952, essv6760217, essv6690692, essv6952154, essv6794902, essv6893730, essv6818497, essv6719650, essv6737146, essv6975211, essv6957416, essv6818501, essv6957425, essv6855574, essv6754735, essv6855582, essv6975213, essv6751791, essv6705176, essv6889899, essv6814541, essv6907801, essv6975215, essv6875917, essv6841469, essv6771062, essv6849479, essv6957417, essv6865851, essv6774799, essv6861139, essv6822653, essv6907805, essv6923292, essv6923293, essv6919100, essv6855585, essv6808603, essv6723475
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, 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, SSM063, SSM012
Known GenesBBS9, BMPER, DPY19L1, DPY19L1P1, FKBP9, KBTBD2, LINC00997, MIR550A2, MIR550B2, NPSR1, NPSR1-AS1, NT5C3A, RP9, RP9P, ZNRF2P1
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)esv2734221
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer