A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718946



Internal ID9953238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55093332..55094254hg38UCSC Ensembl
Outerchr19:55604700..55605622hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967557, essv6954433, essv6937401, essv6898435, essv6786709, essv6874515, essv6868484, essv6950254, essv6842253, essv6807196, essv6895626, essv6766397, essv6815065, essv6666561, essv6753348, essv6941495, essv6717914, essv6776715, essv6839727, essv6804253, essv6741957, essv6725577, essv6788880, essv6782399, essv6902303, essv6694432, essv6846785, essv6885806, essv6696759, essv6761707, essv6707083, essv6892133, essv6909837, essv6801370, essv6733246, essv6703602, essv6764056, essv6667399, essv6948218, essv6713994, essv6674875, essv6744782, essv6756392, essv6928853, essv6797182, essv6946208, essv6729368, essv6820947, essv6773190, essv6824713, essv6668772, essv6784708, essv6758910, essv6685952, essv6863684, essv6810186, essv6721751, essv6710383, essv6747620, essv6832349, essv6933035, essv6874908, essv6852870, essv6828780, essv6913736, essv6858846, essv6880270, essv6735852, essv6971997, essv6678928, essv6915163, essv6682614, essv6813001, essv6917199, essv6750444, essv6888826, essv6905895, essv6738673, essv6717643, essv6877497, essv6883108, essv6961085, essv6901436, essv6746721, essv6835934, essv6793008, essv6921454, essv6925434, essv6692518, essv6780579, essv6871536, essv6699436, essv6769315, essv6816372, essv6843624
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, SSM094, SSM032, 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, SSM030, SSM063, SSM012
Known GenesPPP1R12C
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)esv2718946
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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