A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728154



Internal ID9962467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112548780..112549131hg38UCSC Ensembl
Outerchr4:113469936..113470287hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726717, essv6844580, essv6889797, essv6686884, essv6865065, essv6907045, essv6810962, essv6676094, essv6808074, essv6956259, essv6822035, essv6851831, essv6817650, essv6883894, essv6708030, essv6785961, essv6869382, essv6942858, essv6881102, essv6848421, essv6825949, essv6886660, essv6899341, essv6718983, essv6790078, essv6777753, essv6973968, essv6860278, essv6854558, essv6700572, essv6805093, essv6893098, essv6711448, essv6670405
SamplesSSM100, SSM075, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM085, SSM078, SSM080, SSM076, SSM070, SSM095, SSM098
Known GenesC4orf21
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)esv2728154
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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