A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718859



Internal ID9953151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54219746..54239661hg38UCSC Ensembl
Outerchr19:54723615..54743537hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819916
hg1919923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729366, essv6874494, essv6950238, essv6846775, essv6801364, essv6694388, essv6733229, essv6868471, essv6812999, essv6738668, essv6717464, essv6746654, essv6839720, essv6784701, essv6696755, essv6725556, essv6824711, essv6797171, essv6682606, essv6776709, essv6921432, essv6735850, essv6874831, essv6807192, essv6885805, essv6883102, essv6898424, essv6928835, essv6863672, essv6764047, essv6843600, essv6925419, essv6901429, essv6888823, essv6871528, essv6895612, essv6804248, essv6810180, essv6713989, essv6971989, essv6756386, essv6721735, essv6961077, essv6717905, essv6692515, essv6816367, essv6842209, essv6835914, essv6954423, essv6892130, essv6917184, essv6852862
SamplesSSM100, SSM036, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM097, SSM073, SSM050, SSM074, SSM042, SSM088, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM044, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM072, SSM082, SSM007, SSM016, SSM005, SSM037, SSM077, SSM076, SSM010, SSM091, SSM095, SSM025, SSM099, SSM043, SSM098, SSM049
Known GenesLILRA6, LILRB3
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)esv2718859
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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