A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718925



Internal ID9953217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54755160..54769910hg38UCSC Ensembl
Outerchr19:55266612..55281362hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3814751
hg1914751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874853, essv6967561, essv6871532, essv6678919, essv6961083, essv6928848, essv6905892, essv6801369, essv6868477, essv6832341, essv6717554, essv6750433, essv6780563, essv6921438, essv6874505, essv6810184, essv6667354, essv6685956, essv6725566, essv6863679, essv6773188, essv6678909, essv6801368, essv6917191, essv6666551, essv6782288, essv6902300, essv6832342, essv6835925, essv6738669, essv6843609, essv6674872, essv6725567
SamplesSSM008, SSM027, SSM075, SSM045, SSM011, SSM065, SSM013, SSM050, SSM088, SSM084, SSM090, SSM029, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM067, SSM006, SSM081, SSM072, SSM082, SSM016, SSM091, SSM034, SSM004, SSM056, SSM012
Known GenesKIR2DL1
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)esv2718925
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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