A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732878



Internal ID9967200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150002804..150067365hg38UCSC Ensembl
Outerchr6:150323940..150388501hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3864562
hg1964562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746033, essv6761897, essv6778302, essv6896851, essv6705139, essv6798975, essv6943552, essv6893636, essv6969479, essv6939124, essv6708534, essv6833874, essv6888833, essv6671279, essv6818377, essv6963902, essv6808525, essv6676682, essv6715638, essv6974975, essv6727224, essv6743262, essv6856098, essv6849301, essv6887101, essv6730979, essv6805535, essv6952012, essv6679676, essv6887102, essv6811418, essv6818378, essv6687343, essv6962239, essv6845055, essv6963903, essv6918944, essv6767628, essv6918943, essv6723336, essv6875827, essv6814428, essv6782316, essv6841362, essv6822539, essv6845056, essv6705140, essv6701203, essv6774681, essv6708535, essv6837539, essv6898153, essv6811417, essv6957188, essv6923175, essv6930556, essv6915153, essv6926906, essv6903817, essv6748838, essv6833875, essv6947908, essv6837540, essv6723335, essv6802659, essv6861002, essv6911453, essv6869861, essv6872861
SamplesSSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM039, SSM013, SSM073, SSM074, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM029, SSM096, SSM026, SSM017, SSM019, SSM035, SSM032, SSM031, SSM067, SSM086, SSM066, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM077, SSM076, SSM022, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM098, SSM056, SSM012
Known GenesRAET1K, RAET1L, ULBP3
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)esv2732878
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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