A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725675



Internal ID10309311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98199080..98209423hg38UCSC Ensembl
Outerchr3:97917924..97928267hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3810344
hg1910344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922364, essv6875159, essv6804872, essv6929709, essv6821010, essv6933943, essv6889526, essv6679750, essv6810751, essv6789432, essv6798084, essv6918048, essv6711175, essv6878088, essv6833123, essv6699321, essv6789769, essv6793918, essv6914472, essv6723210, essv6742583, essv6785644, essv6872170, essv6745367, essv6675789, essv6669931, essv6942494, essv6844373, essv6926187, essv6697408, essv6955051, essv6773992, essv6714823, essv6813675, essv6707780, essv6854144, essv6821745, essv6817293, essv6904484, essv6689786, essv6955790, essv6883685, essv6880860
SamplesSSM036, SSM071, SSM079, SSM087, SSM038, SSM097, SSM009, SSM093, SSM074, SSM042, SSM041, SSM023, SSM092, SSM021, SSM018, SSM069, SSM026, SSM017, SSM019, SSM094, SSM032, SSM031, SSM001, SSM033, SSM066, SSM006, SSM085, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM004, SSM043
Known Genes
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)esv2725675
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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