A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731777



Internal ID9966095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29943636..30260756hg38UCSC Ensembl
Outerchr6:29911413..30228533hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38317121
hg19317121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881819, essv6869657, essv6869656, essv6730841, essv6697893, essv6826329, essv6849057, essv6943337, essv6911304, essv6911305, essv6790462, essv6896750, essv6736929, essv6762593, essv6884172, essv6728287, essv6949262, essv6927751, essv6896749, essv6884170, essv6881355, essv6811263, essv6719349, essv6687206, essv6911303, essv6767466, essv6849058, essv6911292, essv6690370, essv6927784, essv6687207, essv6893485, essv6881708, essv6715467, essv6790466, essv6708379, essv6963645, essv6841207, essv6938935, essv6884169, essv6715466, essv6811262, essv6950262, essv6950151, essv6683956, essv6822402, essv6837395, essv6730839, essv6728298, essv6802537, essv6727061, essv6938934, essv6837396, essv6818163, essv6918719, essv6886968, essv6808349, essv6918715, essv6974701, essv6943338, essv6759984, essv6960095, essv6869651, essv6860765, essv6890176, essv6927762, essv6736930, essv6974702, essv6956922, essv6841208, essv6790463, essv6974705, essv6849060, essv6938937, essv6837401, essv6676487, essv6701002, essv6927773, essv6818152, essv6918714, essv6814257, essv6708377, essv6683957, essv6736933, essv6849059, essv6903686, essv6947744, essv6844866, essv6808350, essv6760098, essv6764963, essv6770746, essv6884171, essv6865534, essv6730829, essv6893483, essv6949928, essv6899638, essv6748690, essv6837402, essv6943322, essv6969300, essv6683958, essv6844870, essv6963649, essv6802538, essv6974703, essv6739940, essv6711788, essv6811269, essv6808348, essv6896748, essv6708378, essv6794643, essv6869655, essv6878577, essv6918720, essv6715464, essv6802530, essv6730840, essv6915023, essv6890178, essv6860767, essv6790464, essv6969299, essv6899640, essv6844868, essv6762592, essv6860763, essv6841191, essv6938936, essv6893484, essv6893486, essv6844869, essv6770768, essv6770767
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM064, SSM079, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM084, SSM090, SSM047, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM044, SSM001, SSM086, SSM085, SSM007, SSM015, SSM078, SSM016, SSM080, SSM077, SSM076, SSM022, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM063
Known GenesHCG17, HCG8, HCG9, HLA-A, HLA-J, HLA-L, PPP1R11, RNF39, TRIM10, TRIM15, TRIM26, TRIM31, TRIM40, ZNRD1, 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)esv2731777
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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