A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2718921

Internal ID9953213
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54743552..54775467hg38UCSC Ensembl
Outerchr19:55255000..55286919hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537e201
Supporting Variantsessv6747615, essv6905892, essv6717488, essv6843607, essv6713996, essv6780560, essv6868476, essv6741948, essv6883106, essv6678912, essv6880263, essv6725566, essv6801368, essv6782288, essv6685956, essv6921438, essv6738669, essv6733240, essv6666551, essv6725567, essv6717554, essv6874505, essv6898428, essv6773188, essv6928848, essv6832341, essv6874853, essv6721742, essv6782321, essv6902300, essv6780563, essv6678909, essv6832342, essv6961083, essv6810184, essv6801369, essv6843609, essv6863679, essv6674872, essv6733244, essv6667354, essv6744774, essv6678919, essv6921437, essv6868477, essv6950246, essv6928843, essv6917191, essv6835925, essv6871532, essv6750433, essv6666552, essv6835921, essv6733239, essv6967561
SamplesSSM065, SSM027, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM084, SSM099, SSM042, SSM088, SSM089, SSM090, SSM031, SSM072, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM050, SSM012, SSM093, SSM056, SSM017, SSM011, SSM029, SSM047, SSM034, SSM019, SSM052, SSM044, SSM004, SSM075, SSM026, SSM008, SSM081
Known GenesKIR2DL1, KIR2DL3
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2718921
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0

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