A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718860



Internal ID9953152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54223005..54312746hg38UCSC Ensembl
Outerchr19:54726877..54824016hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3889742
hg1997140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786042, essv6835915, essv6756387, essv6925420, essv6895613, essv6788875, essv6703595, essv6746665, essv6788874, essv6839722, essv6738668, essv6824712, essv6804249, essv6902298, essv6717906, essv6843601, essv6863673, essv6815020, essv6753347, essv6874495, essv6880260, essv6954424, essv6921433, essv6725557, essv6744772, essv6915129, essv6710378, essv6747611, essv6764048, essv6782243, essv6784702, essv6915118, essv6733230, essv6888824, essv6766392, essv6852863
SamplesSSM008, SSM083, SSM045, SSM079, SSM039, SSM009, SSM073, SSM093, SSM050, SSM088, SSM002, SSM041, SSM057, SSM058, SSM084, SSM047, SSM018, SSM069, SSM096, SSM062, SSM017, SSM001, SSM086, SSM068, SSM082, SSM007, SSM053, SSM091, SSM055, SSM025, SSM043, SSM098, SSM063, SSM012
Known GenesLILRA3, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, MIR4752
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)esv2718860
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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