A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732391



Internal ID10316027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87575954..87576515hg38UCSC Ensembl
Outerchr6:88285672..88286233hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865653, essv6761531, essv6754602, essv6770882, essv6811371, essv6947864, essv6855312, essv6782276, essv6694214, essv6974871, essv6798919, essv6676629, essv6881468, essv6926867, essv6849214, essv6794712, essv6934791, essv6814380, essv6888443, essv6918893, essv6890279, essv6841316, essv6818296, essv6705089, essv6684038, essv6740023, essv6923130, essv6899754, essv6915122, essv6833837, essv6826463, essv6875788, essv6767595, essv6943500, essv6762683, essv6896814, essv6701141, essv6894820, essv6680452, essv6757447, essv6727174, essv6958928, essv6869805, essv6765065, essv6822497, essv6808479, essv6690522, essv6957093, essv6748802, essv6961773, essv6878670
SamplesSSM100, SSM059, SSM036, SSM008, SSM071, SSM024, SSM075, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM093, SSM002, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM018, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM001, SSM086, SSM033, SSM068, SSM040, SSM072, SSM082, SSM078, SSM016, SSM080, SSM037, SSM077, SSM076, SSM034, SSM004, SSM099, SSM052, SSM056, SSM063, SSM012
Known GenesRARS2
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)esv2732391
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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