A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718863



Internal ID9953155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54255259..54278883hg38UCSC Ensembl
Outerchr19:54759122..54782738hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823625
hg1923617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835915, essv6756387, essv6925420, essv6895613, essv6703595, essv6746665, essv6788874, essv6839722, essv6804249, essv6717906, essv6843601, essv6880260, essv6725557, essv6915129, essv6710378, essv6784702, essv6733230, essv6888824, essv6766392, essv6852863
SamplesSSM083, SSM045, SSM039, SSM073, SSM093, SSM002, SSM041, SSM058, SSM084, SSM047, SSM018, SSM069, SSM096, SSM086, SSM068, SSM082, SSM007, SSM043, SSM098, SSM063
Known GenesLILRB2, LILRB5
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)esv2718863
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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