A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718921



Internal ID9953213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54743552..54775467hg38UCSC Ensembl
Outerchr19:55255000..55286919hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3831916
hg1931920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537e201
Supporting Variantsessv6733239, essv6874853, essv6967561, essv6843607, essv6871532, essv6678919, essv6961083, essv6928848, essv6905892, essv6801369, essv6666552, essv6883106, essv6868477, essv6780560, essv6832341, essv6717554, essv6717488, essv6782321, essv6750433, essv6780563, essv6733244, essv6835921, essv6921438, essv6874505, essv6810184, essv6667354, essv6921437, essv6741948, essv6685956, essv6725566, essv6863679, essv6773188, essv6678909, essv6733240, essv6801368, essv6747615, essv6713996, essv6917191, essv6666551, essv6782288, essv6902300, essv6950246, essv6880263, essv6928843, essv6721742, essv6832342, essv6835925, essv6868476, essv6738669, essv6898428, essv6678912, essv6843609, essv6674872, essv6725567, essv6744774
SamplesSSM008, SSM027, SSM024, SSM075, SSM045, SSM011, SSM065, SSM013, SSM093, SSM050, SSM042, SSM088, SSM084, SSM090, SSM047, SSM029, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM031, SSM067, SSM044, SSM006, SSM081, SSM072, SSM082, SSM016, SSM053, SSM091, SSM055, SSM034, SSM004, SSM099, SSM052, SSM056, SSM012
Known GenesKIR2DL1, KIR2DL3
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)esv2718921
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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