A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724891



Internal ID9959193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:9988492..10047899hg38UCSC Ensembl
Outerchr3:10030176..10089583hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3859408
hg1959408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880788, essv6875099, essv6833054, essv6770057, essv6788844, essv6777449, essv6750990, essv6711084, essv6736379, essv6773925, essv6954384, essv6686566, essv6929637, essv6672909, essv6804813, essv6748160, essv6807782, essv6704290, essv6889460, essv6859807, essv6711085, essv6973334, essv6689724, essv6869100, essv6926120, essv6756886, essv6933855, essv6798004, essv6781426, essv6730100, essv6785562, essv6889461, essv6675705, essv6914413, essv6872110, essv6825542, essv6700182, essv6947019, essv6896201, essv6962390, essv6910577, essv6793833, essv6872108, essv6883628, essv6848376, essv6968508, essv6726347, essv6766912, essv6753906, essv6878027, essv6840480, essv6929636, essv6789693, essv6973333, essv6951091, essv6762146, essv6742530, essv6817189, essv6942398, essv6880789, essv6938190, essv6669802, essv6813607, essv6698877, essv6955638, essv6679669, essv6820353, essv6742532, essv6854027, essv6825541, essv6756885, essv6921151, essv6804812, essv6718640, essv6683264, essv6954395, essv6922279, essv6739281, essv6764510, essv6831486, essv6955640, essv6753276, essv6667148, essv6914414, essv6789694, essv6917965, essv6829476, essv6733817, essv6922278, essv6745311, essv6722687, essv6766911, essv6844311, essv6889459, essv6804811, essv6910578, essv6836667, essv6899020, essv6864605, essv6821674, essv6801993, essv6697357, essv6892770, essv6847842, essv6762145, essv6844312
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063
Known GenesCIDECP, EMC3-AS1, FANCD2, LOC401052
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)esv2724891
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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