A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718593



Internal ID9952885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42707585..43149733hg38UCSC Ensembl
Outerchr19:43211737..43653885hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38442149
hg19442149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523e201
Supporting Variantsessv6925380, essv6816337, essv6937353, essv6713962, essv6810156, essv6707047, essv6667055, essv6738640, essv6941459, essv6868434, essv6843558, essv6780522, essv6682579, essv6913705, essv6909805, essv6880244, essv6905860, essv6692475, essv6841919, essv6801335, essv6694232, essv6741917, essv6824679, essv6874465, essv6832311, essv6682581, essv6668740, essv6717220, essv6696723, essv6741918, essv6717860, essv6961031, essv6667021, essv6797140, essv6810158, essv6946157, essv6764028, essv6874463, essv6666492, essv6788843, essv6871506, essv6667077, essv6868435, essv6902267, essv6733197, essv6909804, essv6692474, essv6917144, essv6668741, essv6874575, essv6947906, essv6928807, essv6950209, essv6885789, essv6810157, essv6901409, essv6852824, essv6729344, essv6888806, essv6747586, essv6783820, essv6828742, essv6843559, essv6807167, essv6871504, essv6828741, essv6883075, essv6892106, essv6735834, essv6678885, essv6871505, essv6871503, essv6667032, essv6846744, essv6689081, essv6797141, essv6901411, essv6758885, essv6717231, essv6773155, essv6696724, essv6761682, essv6937352, essv6852825, essv6692473, essv6807168, essv6863633, essv6674822, essv6784673, essv6758883, essv6735835, essv6788846, essv6735833, essv6784675, essv6792950, essv6721702, essv6917153, essv6717861, essv6667010, essv6868436, essv6738641, essv6692472, essv6888805, essv6871502, essv6902266, essv6921382, essv6667044, essv6917148, essv6874468, essv6666493, essv6674823, essv6725527, essv6756354, essv6733196, essv6874586, essv6877457, essv6810153, essv6858794, essv6863632, essv6769290, essv6682578, essv6764029, essv6703571, essv6682580, essv6947895, essv6807166, essv6784674, essv6703570, essv6874564, essv6750407, essv6735831, essv6824678, essv6721701, essv6909803, essv6858795, essv6921381, essv6721700, essv6756355, essv6707045
SamplesSSM100, SSM059, SSM036, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM093, SSM050, SSM074, SSM042, SSM088, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM012
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8
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)esv2718593
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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