A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2731368

Internal ID9965685
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:666356..667873hg38UCSC Ensembl
Outerchr6:666356..667873hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2731368
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0

Hosted by The Centre for Applied Genomics
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