A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718335



Internal ID9952626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21518987..22435411hg38UCSC Ensembl
Outerchr19:21701789..22618213hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38916425
hg19916425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780489, essv6828713, essv6788806, essv6710334, essv6858753, essv6843520, essv6868396, essv6729313, essv6846716, essv6947584, essv6685911, essv6839646, essv6788805, essv6914608, essv6674777, essv6756323, essv6880212, essv6950172, essv6741887, essv6824642, essv6674779, essv6852787, essv6932941, essv6820871, essv6733163, essv6766344, essv6874231, essv6841553, essv6852784, essv6843522, essv6885762, essv6710333, essv6797105, essv6807133, essv6863591, essv6824641, essv6801303, essv6868394, essv6880213, essv6885761, essv6807136, essv6735810, essv6781310, essv6780490, essv6725489, essv6932939, essv6967471, essv6678857, essv6810128, essv6843523, essv6888775, essv6703533, essv6689051, essv6756324, essv6901378, essv6666434, essv6713937, essv6784641, essv6761656, essv6761655, essv6909774, essv6668719, essv6858755, essv6947573, essv6703534, essv6797106, essv6874430, essv6960986, essv6666611, essv6666432, essv6753291, essv6946111, essv6863589, essv6773122, essv6909772, essv6828712, essv6921333, essv6971924, essv6729314, essv6685913, essv6797107, essv6682541, essv6921332, essv6666430, essv6689052, essv6766345, essv6807135, essv6871477, essv6852785, essv6960985, essv6816315, essv6721671, essv6707014, essv6784640, essv6744716, essv6967472, essv6780491, essv6716943, essv6717827, essv6753290, essv6883057, essv6685912, essv6716909, essv6801305, essv6773121, essv6744715, essv6913665, essv6909770, essv6696691, essv6682537, essv6914597, essv6750378, essv6758867, essv6781321, essv6863592, essv6792911, essv6668720, essv6835861, essv6816316, essv6839647, essv6888776, essv6741884, essv6784642, essv6812941, essv6960983, essv6954347, essv6693965, essv6692439, essv6892090, essv6913664, essv6753289, essv6960987, essv6941419, essv6750377, essv6784639, essv6678858, essv6909769, essv6807132, essv6666431, essv6901375, essv6810129, essv6721670, essv6699393, essv6713936, essv6971925, essv6902226, essv6758868, essv6699392, essv6892089, essv6914584, essv6874209, essv6692440, essv6820874, essv6921330, essv6846715, essv6707015, essv6950173, essv6692438, essv6699394, essv6750374, essv6804206, essv6820873, essv6846714, essv6769255, essv6946112, essv6898362, essv6954345, essv6841564, essv6824644, essv6925346, essv6898363, essv6725490, essv6801304, essv6967474, essv6954346, essv6693976, essv6820872, essv6738612, essv6874198, essv6761654, essv6741883, essv6858756, essv6682538, essv6716920, essv6937314, essv6766343, essv6946116, essv6937313, essv6846718, essv6868395, essv6863590, essv6914619, essv6745987, essv6954344, essv6820875, essv6776667
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM053, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM057, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM018, SSM076, SSM058, SSM059, SSM070, SSM080
Known GenesLOC641367, ZNF100, ZNF208, ZNF257, ZNF429, ZNF43, ZNF676, ZNF729, ZNF98
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)esv2718335
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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