A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726081



Internal ID10309717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:154378943..154379280hg38UCSC Ensembl
Outerchr3:154096732..154097069hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918087, essv6804927, essv6864760, essv6886451, essv6854220, essv6817357, essv6859977, essv6679783, essv6899118, essv6675836, essv6836769, essv6829589, essv6825682, essv6722618, essv6889570, essv6670009, essv6821788, essv6807886, essv6883724, essv6718750, essv6973572, essv6813725, essv6929752, essv6707826, essv6833169, essv6785693, essv6683379, essv6789813, essv6781544, essv6869192, essv6942549, essv6793972, essv6697455, essv6673721, essv6947141, essv6903109, essv6892881, essv6849586, essv6711214, essv6955862, essv6844408, essv6848068, essv6906788, essv6704395, essv6922422, essv6962581, essv6810791, essv6880901, essv6700338, essv6730225
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM033, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM078, SSM005, SSM080, SSM077, SSM076, SSM070, SSM095, SSM034, SSM098
Known GenesGPR149
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)esv2726081
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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