A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718798



Internal ID9953090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52773284..52869300hg38UCSC Ensembl
Outerchr19:53276537..53372553hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3896017
hg1996017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888814, essv6792982, essv6946183, essv6717894, essv6782088, essv6747601, essv6843582, essv6824699, essv6839702, essv6816354, essv6812986, essv6801351, essv6807182, essv6721720, essv6921420, essv6917171, essv6785042, essv6810174, essv6746488, essv6682595, essv6678896, essv6905879, essv6839701, essv6797163, essv6835897, essv6842098, essv6971980, essv6909826, essv6758895, essv6692497, essv6839703, essv6948063, essv6769303, essv6685944, essv6835896, essv6883091, essv6868458, essv6843583, essv6950227, essv6814821, essv6814798, essv6766385, essv6967542, essv6703589, essv6898416, essv6733217, essv6928825, essv6692500
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM064, SSM079, SSM039, SSM013, SSM009, SSM074, SSM023, SSM028, SSM084, SSM047, SSM096, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM044, SSM001, SSM014, SSM033, SSM072, SSM082, SSM007, SSM016, SSM077, SSM076, SSM010, SSM055, SSM070, SSM034, SSM099, SSM043, SSM063
Known GenesZNF28, ZNF468, ZNF600
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)esv2718798
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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