A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2731778

Internal ID9966096
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29945582..30009755hg38UCSC Ensembl
Outerchr6:29913359..29977532hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2731778
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0

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