A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718343



Internal ID9952634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21616278..21851531hg38UCSC Ensembl
Outerchr19:21799080..22034333hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38235254
hg19235254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828713, essv6788806, essv6710334, essv6868396, essv6788805, essv6914608, essv6674777, essv6880212, essv6824642, essv6852787, essv6733163, essv6766344, essv6852784, essv6885762, essv6863591, essv6880213, essv6807136, essv6735810, essv6781310, essv6780490, essv6932939, essv6843523, essv6703533, essv6689051, essv6756324, essv6666434, essv6713937, essv6784641, essv6761656, essv6858755, essv6703534, essv6960986, essv6666611, essv6753291, essv6946111, essv6773122, essv6909772, essv6729314, essv6685913, essv6797107, essv6689052, essv6766345, essv6807135, essv6871477, essv6960985, essv6721671, essv6967472, essv6780491, essv6717827, essv6685912, essv6744715, essv6696691, essv6750378, essv6792911, essv6668720, essv6839647, essv6888776, essv6784642, essv6812941, essv6954347, essv6693965, essv6892090, essv6941419, essv6678858, essv6901375, essv6810129, essv6758868, essv6892089, essv6874209, essv6692440, essv6820874, essv6707015, essv6699394, essv6804206, essv6820873, essv6769255, essv6946112, essv6824644, essv6898363, essv6725490, essv6801304, essv6967474, essv6738612, essv6858756, essv6682538, essv6937314, essv6846718, essv6863590, essv6776667
SamplesSSM065, SSM022, SSM027, SSM053, SSM086, SSM036, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM057, SSM032, SSM039, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM005, SSM093, SSM100, SSM056, SSM085, SSM011, SSM066, SSM029, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM049, SSM008, SSM076, SSM058, SSM059, SSM070, SSM080
Known GenesLOC641367, ZNF100, ZNF43
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)esv2718343
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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