A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718785



Internal ID10302421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52483772..52537391hg38UCSC Ensembl
Outerchr19:52987025..53040644hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3853620
hg1953620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967539, essv6858817, essv6828760, essv6721718, essv6738658, essv6797159, essv6842076, essv6746476, essv6782055, essv6756373, essv6871517, essv6678894, essv6816352, essv6713979, essv6807179, essv6707068, essv6835899, essv6925408, essv6784692, essv6699424, essv6694299, essv6820929, essv6946181, essv6710367, essv6729355, essv6898415, essv6941479, essv6874482, essv6892116, essv6788858, essv6667243, essv6666520, essv6933003, essv6874720, essv6766382, essv6863657, essv6804242, essv6812984, essv6758894, essv6824697, essv6909823, essv6888813, essv6703586, essv6954408, essv6766383, essv6921415, essv6852850, essv6674847, essv6883086, essv6868452, essv6810172, essv6880252, essv6858816, essv6764039, essv6839699, essv6753337, essv6832326, essv6909822, essv6780541
SamplesSSM059, SSM008, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM090, SSM018, SSM069, SSM029, SSM096, SSM062, SSM089, SSM017, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM040, SSM082, SSM020, SSM007, SSM078, SSM005, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM025, SSM004, SSM099, SSM063
Known GenesZNF578, ZNF808
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)esv2718785
Frequency
Sample Size96
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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