A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730969



Internal ID10314605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:159165377..159165761hg38UCSC Ensembl
Outerchr5:158592385..158592769hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841104, essv6697824, essv6708291, essv6687130, essv6723093, essv6855012, essv6676410, essv6778039, essv6822319, essv6818023, essv6811189, essv6963477, essv6896658, essv6881297, essv6844782, essv6886902, essv6798694, essv6774482, essv6726995, essv6808283, essv6865415, essv6794511, essv6943208, essv6854332, essv6830047, essv6974526, essv6922916, essv6969212, essv6782049, essv6814195, essv6690295, essv6786246, essv6802458, essv6704868, essv6956757, essv6683882, essv6848894, essv6700898, essv6860641, essv6893369
SamplesSSM036, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM039, SSM073, SSM088, SSM041, SSM023, SSM028, SSM084, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM067, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM078, SSM077, SSM076, SSM034, SSM099, SSM098
Known GenesRNF145
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)esv2730969
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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