A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731778



Internal ID9966096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29945582..30009755hg38UCSC Ensembl
Outerchr6:29913359..29977532hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3864174
hg1964174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683956, essv6837395, essv6911303, essv6790462, essv6949928, essv6708378, essv6893483, essv6911304, essv6736929, essv6918715, essv6950151, essv6764963, essv6808349, essv6844866, essv6974701, essv6762592, essv6841191, essv6918714, essv6884169, essv6683957, essv6849059, essv6818163, essv6715466, essv6869655, essv6837401, essv6794643, essv6802538, essv6878577, essv6938935, essv6728287, essv6802537, essv6708377, essv6818152, essv6943337, essv6802530, essv6844868, essv6770746, essv6808348, essv6711788, essv6730839, essv6949262, essv6963645, essv6687206, essv6811262, essv6899638, essv6911292, essv6849058, essv6881708, essv6899640, essv6927773, essv6890176, essv6841207, essv6790463, essv6708379, essv6849057, essv6860767, essv6730829, essv6860763, essv6869651, essv6938934, essv6963649, essv6927751, essv6896749, essv6927762, essv6974702, essv6697893, essv6860765, essv6884170, essv6844869, essv6893484, essv6918719, essv6974703, essv6736930, essv6938936, essv6770767, essv6811263, essv6770768, essv6790464, essv6728298, essv6903686, essv6837396, essv6893485, essv6715464, essv6896748
SamplesSSM065, SSM022, SSM007, SSM027, SSM013, SSM086, SSM084, SSM099, SSM042, SSM078, SSM043, SSM088, SSM090, SSM035, SSM001, SSM083, SSM050, SSM097, SSM041, SSM062, SSM093, SSM100, SSM085, SSM017, SSM009, SSM029, SSM003, SSM095, SSM047, SSM073, SSM002, SSM034, SSM063, SSM038, SSM023, SSM075, SSM015, SSM098, SSM076, SSM070
Known GenesHCG9, HLA-A, HLA-J, ZNRD1-AS1
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)esv2731778
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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