A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726254



Internal ID9960560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178832327..178833075hg38UCSC Ensembl
Outerchr3:178550115..178550863hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899131, essv6938333, essv6707841, essv6922386, essv6785712, essv6914520, essv6909040, essv6973605, essv6821806, essv6878136, essv6810804, essv6699755, essv6675855, essv6892893, essv6804941, essv6686689, essv6693502, essv6754014, essv6789829, essv6777552, essv6813745, essv6926242, essv6700357, essv6821388, essv6704411, essv6756968, essv6918097, essv6714889, essv6896303, essv6807906, essv6933990, essv6922442, essv6833184, essv6742625, essv6860002, essv6910698, essv6802097, essv6849765, essv6906809, essv6736482, essv6711229, essv6745411, essv6673876, essv6836783, essv6798150, essv6840931, essv6886466, essv6730240, essv6903125, essv6854249, essv6759544, essv6942576
SamplesSSM010, SSM022, SSM013, SSM053, SSM082, SSM006, SSM055, SSM061, SSM099, SSM042, SSM040, SSM043, SSM088, SSM035, SSM072, SSM016, SSM001, SSM032, SSM039, SSM067, SSM083, SSM050, SSM041, SSM077, SSM005, SSM093, SSM100, SSM017, SSM011, SSM029, SSM003, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM087, SSM019, SSM096, SSM023, SSM079, SSM074, SSM075, SSM015, SSM014, SSM098, SSM018, SSM076, SSM058, SSM059, SSM070
Known GenesKCNMB2
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)esv2726254
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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