A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718595



Internal ID9952887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42817017..43149733hg38UCSC Ensembl
Outerchr19:43321169..43653885hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38332717
hg19332717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925380, essv6816337, essv6713962, essv6707047, essv6843558, essv6780522, essv6909805, essv6880244, essv6905860, essv6692475, essv6694232, essv6824679, essv6874465, essv6832311, essv6682581, essv6717860, essv6797140, essv6810158, essv6946157, essv6788843, essv6667077, essv6733197, essv6909804, essv6874575, essv6947906, essv6928807, essv6950209, essv6885789, essv6810157, essv6852824, essv6888806, essv6828742, essv6843559, essv6807167, essv6883075, essv6892106, essv6871505, essv6667032, essv6689081, essv6797141, essv6901411, essv6717231, essv6696724, essv6852825, essv6807168, essv6863633, essv6784673, essv6788846, essv6735833, essv6784675, essv6792950, essv6721702, essv6917153, essv6717861, essv6888805, essv6902266, essv6921382, essv6667044, essv6874468, essv6674823, essv6725527, essv6756354, essv6733196, essv6874586, essv6858794, essv6764029, essv6703571, essv6947895, essv6703570, essv6721701, essv6858795, essv6756355
SamplesSSM100, SSM036, SSM071, SSM024, SSM075, SSM045, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM023, SSM058, SSM084, SSM090, SSM047, SSM018, SSM069, SSM096, SSM062, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM006, SSM068, SSM081, SSM040, SSM016, SSM005, SSM080, SSM037, SSM077, SSM091, SSM070, SSM095, SSM004, SSM043, SSM049, SSM012
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
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)esv2718595
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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