A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731368



Internal ID9965685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:666356..667873hg38UCSC Ensembl
Outerchr6:666356..667873hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751504, essv6814219, essv6794539, essv6676438, essv6934591, essv6959629, essv6711726, essv6798725, essv6872636, essv6854521, essv6786274, essv6969248, essv6808303, essv6911210, essv6963544, essv6748655, essv6837317, essv6727654, essv6745864, essv6782074, essv6802480, essv6890103, essv6719300, essv6907421, essv6833669, essv6893394, essv6943244, essv6956822, essv6922946, essv6757314, essv6818072, essv6841139, essv6811206, essv6875605, essv6790391, essv6830073, essv6770684, essv6805315, essv6884124, essv6736878, essv6700937, essv6690320, essv6708313, essv6774518, essv6903622, essv6723123, essv6704892, essv6930339, essv6860685, essv6759531, essv6878525, essv6881317, essv6947692, essv6887164, essv6938883, essv6715394, essv6896682, essv6680295, essv6855071, essv6727028, essv6754435, essv6764922, essv6826272, essv6951764, essv6677489, essv6734263, essv6739877, essv6759937, essv6825020, essv6876487, essv6743052, essv6767419, essv6778072, essv6844804, essv6943595, essv6914979, essv6886925, essv6667483, essv6683907, essv6899595, essv6918632, essv6697840, essv6865452, essv6793976, essv6927163, essv6822355
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM064, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM003, SSM095, SSM030, SSM073, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesEXOC2
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)esv2731368
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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