A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731716



Internal ID9966034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24811624..24817765hg38UCSC Ensembl
Outerchr6:24811852..24817993hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386142
hg196142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677644, essv6667506, essv6736908, essv6767451, essv6715428, essv6711762, essv6959873, essv6790435, essv6683940, essv6943282, essv6762568, essv6814248, essv6818135, essv6727909, essv6676473, essv6798760, essv6822389, essv6969283, essv6946262, essv6872656, essv6938911, essv6690352, essv6770721, essv6922986, essv6687184, essv6680322, essv6748675, essv6844830, essv6759832, essv6956897, essv6751536, essv6719334, essv6704917, essv6930377, essv6951804, essv6934633, essv6837354, essv6723159, essv6708344, essv6830114, essv6884149, essv6860735, essv6697869, essv6802513, essv6745893, essv6947725, essv6878554, essv6907465, essv6854854, essv6805349, essv6899617, essv6887463, essv6849024, essv6881343, essv6896718, essv6778107, essv6865509, essv6927473, essv6903658, essv6855130, essv6703166, essv6974672, essv6759966, essv6743081, essv6869616, essv6915008, essv6878931, essv6811238, essv6730799, essv6826312, essv6774546, essv6825343, essv6893436, essv6739917, essv6794582, essv6727049, essv6671029, essv6841178, essv6757341, essv6911248, essv6963617, essv6926714, essv6786314, essv6764939, essv6694089, essv6833699, essv6875634, essv6782112, essv6918670, essv6890144, essv6886957, essv6754463, essv6794288, essv6700987, essv6808326
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesFAM65B
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)esv2731716
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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