A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718604



Internal ID10302240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43140497..43250681hg38UCSC Ensembl
Outerchr19:43644649..43754833hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38110185
hg19110185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839681, essv6898403, essv6710355, essv6674826, essv6792958, essv6824681, essv6874472, essv6828745, essv6667132, essv6750410, essv6925386, essv6696726, essv6717873, essv6699414, essv6928811, essv6797144, essv6921394, essv6868441, essv6895588, essv6781832, essv6725535, essv6925384, essv6917158, essv6692480, essv6843564, essv6928809, essv6810163, essv6807169, essv6773160, essv6692479, essv6971960, essv6898402, essv6888807, essv6694254, essv6696727, essv6950211, essv6871508, essv6804230, essv6883080, essv6816340, essv6839680, essv6905862, essv6901414, essv6717265, essv6967515, essv6928810, essv6696725, essv6913706
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM079, SSM065, SSM038, SSM013, SSM073, SSM074, SSM041, SSM028, SSM084, SSM090, SSM018, SSM096, SSM089, SSM017, SSM019, SSM094, SSM031, SSM006, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM091, SSM070, SSM004, SSM099, SSM043, SSM098, SSM056
Known GenesLOC284344, PSG4, PSG5
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)esv2718604
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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