A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723046



Internal ID10306682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9062082..9062662hg38UCSC Ensembl
Outerchr21:9900915..9901495hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744856, essv6810250, essv6682723, essv6949052, essv6689158, essv6967722, essv6877590, essv6721852, essv6788986, essv6666746, essv6895728, essv6679011, essv6925558, essv6871618, essv6875631, essv6880332, essv6883166, essv6836030, essv6961284, essv6950389, essv6892202, essv6675034, essv6853033, essv6917286, essv6846872, essv6946331, essv6941627, essv6729479, essv6859008, essv6885888, essv6898510, essv6764107, essv6813074, essv6801491, essv6909918, essv6915874, essv6714103, essv6843752, essv6710475, essv6937526
SamplesSSM027, SSM024, SSM075, SSM046, SSM011, SSM087, SSM097, SSM093, SSM042, SSM002, SSM041, SSM023, SSM092, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM062, SSM026, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM085, SSM072, SSM082, SSM016, SSM053, SSM076, SSM022, SSM095, SSM099, 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)esv2723046
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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