A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723104



Internal ID10306740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10786740..10787254hg38UCSC Ensembl
Outerchr21:10725203..10725717hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38515
hg19515
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, essv6797305, essv6679022, essv6733372, essv6901507, essv6863811, essv6725701, essv6972137, essv6810258, essv6828881, essv6832449, essv6769411, essv6686061, essv6880335, essv6668365, essv6813080, essv6801497, essv6933160, essv6871624, essv6895738, essv6793144, essv6853044, essv6950398, essv6692623, essv6836035, essv6885891, essv6780708, essv6813079, essv6689165, essv6725700, essv6839840, essv6675038, essv6804317, essv6928942, essv6839839, essv6961293, essv6859018
SamplesSSM100, SSM036, SSM083, SSM071, SSM024, SSM075, SSM045, SSM064, SSM079, SSM087, SSM097, SSM039, SSM073, SSM093, SSM088, SSM028, SSM090, SSM047, SSM069, SSM026, SSM019, SSM035, SSM032, SSM031, SSM067, 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)esv2723104
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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