A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723030



Internal ID10306666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9007003..9008065hg38UCSC Ensembl
Outerchr21:9845836..9846898hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750513, essv6885885, essv6756457, essv6921588, essv6797301, essv6928937, essv6972134, essv6853031, essv6839833, essv6925557, essv6784829, essv6666743, essv6905992, essv6675032, essv6686052, essv6836027, essv6682716, essv6949041, essv6950390, essv6895725, essv6832445, essv6821042, essv6967717, essv6961281, essv6868596, essv6874603, essv6863800, essv6744855, essv6753421, essv6773319, essv6766461, essv6843755
SamplesSSM083, SSM071, SSM027, SSM024, SSM065, SSM013, SSM088, SSM057, SSM058, SSM028, SSM084, SSM018, SSM029, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM086, SSM033, SSM068, SSM081, SSM082, SSM078, SSM053, SSM091, SSM095, SSM034, SSM098, SSM056, SSM063
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)esv2723030
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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