A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737044



Internal ID10320680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58165888..58166252hg38UCSC Ensembl
Outerchr8:59078447..59078811hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975977, essv6712451, essv6684555, essv6827061, essv6672116, essv6683321, essv6691070, essv6890752, essv6687805, essv6823016, essv6964752, essv6818952, essv6698341, essv6887520, essv6708981, essv6881888, essv6805917, essv6808903, essv6850179, essv6795361, essv6720083, essv6856213, essv6814901, essv6861614, essv6897200, essv6908246, essv6811782, essv6701772, essv6866358, essv6958148, essv6834363, essv6931158
SamplesSSM036, SSM071, SSM027, SSM075, SSM079, SSM087, SSM038, SSM097, SSM039, SSM074, SSM042, SSM088, SSM041, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM031, SSM044, SSM014, SSM086, SSM082, SSM020, SSM078, SSM005, SSM080, SSM077, SSM076, SSM034, SSM099
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)esv2737044
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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