A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723103



Internal ID10306739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10786021..10787892hg38UCSC Ensembl
Outerchr21:10724565..10726436hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381872
hg191872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824835, essv6784839, essv6703725, essv6789000, essv6679020, essv6892208, essv6703724, essv6824844, essv6797305, essv6679022, essv6733372, essv6901507, essv6863811, essv6725701, essv6972137, essv6810258, essv6828881, essv6832449, essv6769411, essv6686061, essv6797306, essv6692624, essv6880335, essv6668365, essv6813080, essv6801497, essv6933160, essv6871624, essv6895738, essv6793144, essv6853044, essv6909930, essv6950398, essv6692623, essv6836035, essv6885891, essv6883171, essv6780708, essv6813079, essv6689165, essv6725700, essv6839840, essv6875709, essv6675038, essv6804317, essv6967726, essv6928942, essv6839839, essv6961293, essv6859018, essv6868604
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM087, SSM097, SSM039, SSM073, SSM093, SSM088, SSM028, SSM090, SSM047, SSM069, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM068, SSM081, SSM072, SSM082, SSM020, SSM080, SSM076, SSM070, SSM095, SSM034, SSM004, SSM098
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)esv2723103
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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