A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744067



Internal ID10325037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5763313..5788057hg38UCSC Ensembl
Outerchr11:5784543..5809287hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824745
hg1924745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969751, essv6864097, essv6924156, essv6702252, essv6812084, essv6907385, essv6953041, essv6870582, essv6743895, essv6710376, essv6688131, essv6912416, essv6737751, essv6862166, essv6800022, essv6900498, essv6908671, essv6845814, essv6749543, essv6919983, essv6823451, essv6698627, essv6842271, essv6783386, essv6838449, essv6672864, essv6819485, essv6944711, essv6760828, essv6735064, essv6736987, essv6827517, essv6677635, essv6731948, essv6709988, essv6804299, essv6806235, essv6815309, essv6768361, essv6866902, essv6894492, essv6755401, essv6779276, essv6927772, essv6970608, essv6758093
SamplesSSM100, SSM059, SSM083, SSM011, SSM064, SSM079, SSM038, SSM039, SSM009, SSM050, SSM074, SSM088, SSM002, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM061, SSM089, SSM017, SSM019, SSM035, SSM032, SSM031, SSM067, SSM001, SSM014, SSM006, SSM085, SSM068, SSM072, SSM007, SSM015, SSM078, SSM053, SSM080, SSM077, SSM076, SSM025, SSM004, SSM098, SSM049, SSM056
Known GenesOR52N1, OR52N5
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)esv2744067
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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