A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734448



Internal ID9968775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55785310..57103280hg38UCSC Ensembl
Outerchr7:55853003..57170987hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381317971
hg191317985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884423, essv6857098, essv6975256, essv6893756, essv6782470, essv6762785, essv6927046, essv6896934, essv6849532, essv6786678, essv6865888, essv6857109, essv6855623, essv6765178, essv6740227, essv6957456, essv6805649, essv6719674, essv6680643, essv6667703, essv6855624, essv6923320, essv6687462, essv6948075, essv6814562, essv6687461, essv6737163, essv6698085, essv6734536, essv6845161, essv6814564, essv6907831, essv6790774, essv6723495, essv6712092, essv6690711, essv6771078, essv6731126, essv6948073, essv6865890, essv6671516, essv6943723, essv6915275, essv6715781, essv6808622, essv6790777, essv6899897, essv6869970, essv6849528, essv6751803, essv6930862, essv6893759, essv6957458, essv6676824, essv6957455, essv6964161, essv6782468, essv6818528, essv6715783, essv6869968, essv6763120, essv6694468, essv6774816, essv6869972, essv6881614, essv6811504, essv6774817, essv6737164, essv6899900, essv6754752, essv6786679, essv6763109, essv6698084, essv6907832, essv6814561, essv6927044, essv6802761, essv6786677, essv6799129, essv6837685, essv6802760, essv6893758, essv6748938, essv6964159, essv6763098, essv6754753, essv6698083, essv6671517, essv6855625, essv6712091, essv6684227, essv6887204, essv6680634, essv6907830, essv6782469, essv6751804, essv6715784, essv6930873, essv6811505, essv6667704, essv6872963, essv6890066, essv6790775, essv6767746, essv6830408, essv6818527, essv6708652, essv6680635, essv6680654, essv6890415, essv6837688, essv6837686, essv6964160, essv6778461, essv6957457, essv6701366, essv6719676, essv6827821, essv6684225, essv6975259, essv6857087, essv6849530, essv6975257, essv6767747, essv6731125, essv6827832, essv6690707, essv6684226, essv6684228, essv6861174, essv6826661, essv6865889, essv6857120, essv6727366, essv6671515, essv6939293, essv6708655, essv6762787, essv6890055, essv6822670, essv6890414, essv6911588, essv6687463, essv6778462, essv6799127, essv6884424, essv6903957, essv6975258, essv6715782, essv6927045, essv6805648, essv6708653, essv6975260, essv6969658, essv6727368, essv6849529, essv6837683, essv6727367, essv6740226, essv6690708, essv6899898, essv6861177, essv6887206, essv6872962, essv6939292, essv6746119, essv6818529
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCCT6A, CHCHD2, DKFZp434L192, GBAS, LOC100130849, LOC100240728, LOC101928401, LOC650226, MIR4283-1, MIR4283-2, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
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)esv2734448
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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