A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718600



Internal ID10302236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42908964..42935108hg38UCSC Ensembl
Outerchr19:43413116..43439260hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3826145
hg1926145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925380, essv6816337, essv6707047, essv6780522, essv6905860, essv6692475, essv6824679, essv6874465, essv6832311, essv6682581, essv6797140, essv6810158, essv6946157, essv6928807, essv6885789, essv6888806, essv6828742, essv6843559, essv6883075, essv6892106, essv6871505, essv6689081, essv6797141, essv6901411, essv6696724, essv6852825, essv6807168, essv6863633, essv6788846, essv6784675, essv6721702, essv6917153, essv6717861, essv6921382, essv6667044, essv6674823, essv6725527, essv6874586, essv6703571, essv6947895, essv6858795
SamplesSSM100, SSM036, SSM071, SSM075, SSM045, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM074, SSM088, SSM023, SSM084, SSM090, SSM018, SSM069, SSM096, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM068, SSM081, SSM040, SSM016, SSM080, SSM037, SSM077, SSM091, SSM095, SSM004, SSM043
Known GenesPSG6, 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)esv2718600
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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