A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725674



Internal ID10309310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98197482..98312320hg38UCSC Ensembl
Outerchr3:97916326..98031164hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38114839
hg19114839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922364, essv6875159, essv6878086, essv6804872, essv6962509, essv6929709, essv6821021, essv6821010, essv6785645, essv6933943, essv6955789, essv6773993, essv6889526, essv6679750, essv6810751, essv6789432, essv6798084, essv6962510, essv6918048, essv6711175, essv6878088, essv6833123, essv6723221, essv6699321, essv6789443, essv6789769, essv6679749, essv6793918, essv6914472, essv6723210, essv6742583, essv6707779, essv6785644, essv6872170, essv6745367, essv6675789, essv6669931, essv6942494, essv6844373, essv6926187, essv6697408, essv6872172, essv6955051, essv6773992, essv6714823, essv6836598, essv6938275, essv6686630, essv6689785, essv6813675, essv6707780, essv6804871, essv6854144, essv6821745, essv6918049, essv6817293, essv6914471, essv6904596, essv6904484, essv6689786, essv6804873, essv6955790, essv6883685, essv6880860, essv6955040, essv6942493
SamplesSSM036, SSM071, SSM027, SSM079, SSM087, SSM038, SSM097, SSM009, SSM093, SSM074, SSM042, SSM002, SSM041, SSM023, SSM092, SSM021, SSM018, SSM069, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM001, SSM033, SSM066, SSM006, SSM085, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM004, SSM043
Known GenesOR5H2, OR5H6
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)esv2725674
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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