A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2728006

Internal ID9962318
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248090605..248281038hg38UCSC Ensembl
Outerchr1:248253907..248444340hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844063, essv6937891, essv6759232, essv6914169, essv6921959, essv6726068, essv6950780, essv6896015, essv6669306, essv6739024, essv6933539, essv6697146, essv6797694, essv6825213, essv6889211, essv6898786, essv6929297, essv6739023, essv6878687, essv6883421, essv6968175, essv6801794, essv6821401, essv6693018, essv6697145, essv6961891, essv6929295, essv6816853, essv6950779, essv6813356, essv6910279, essv6710791, essv6914170, essv6679398, essv6840172, essv6813358, essv6946701, essv6972746, essv6955101, essv6669308, essv6871893, essv6917656, essv6821400, essv6877833, essv6747962, essv6750487, essv6902746, essv6704048, essv6764329, essv6813357, essv6868893, essv6937893, essv6968172, essv6972745, essv6864223, essv6707460, essv6785216, essv6726069, essv6847370, essv6683016, essv6675419, essv6801793, essv6847369, essv6878676, essv6781094, essv6892523, essv6693017, essv6722211, essv6906328, essv6729836, essv6756705, essv6933537, essv6671010, essv6769751, essv6883419, essv6840173, essv6829203, essv6720520, essv6829202, essv6832784, essv6836393, essv6955102, essv6729835, essv6675420, essv6679397, essv6777145, essv6896016, essv6845776, essv6797692, essv6914168, essv6968173, essv6880589, essv6933538, essv6736155, essv6853566, essv6918629, essv6714460, essv6786510, essv6797693, essv6886155, essv6952117, essv6669307, essv6836392, essv6781093, essv6921958, essv6710790, essv6847368, essv6874884, essv6769752, essv6961890, essv6742323, essv6925881, essv6793534, essv6742324, essv6815265, essv6937892, essv6810505, essv6889209, essv6874885, essv6671021, essv6845787, essv6821402, essv6925882, essv6714461, essv6807556, essv6871892, essv6761985, essv6853567, essv6840171, essv6942032, essv6773658, essv6825214, essv6816855, essv6742322, essv6961892, essv6789398, essv6853565, essv6689459, essv6720531, essv6707461, essv6718371, essv6718372
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM089, SSM090, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2728006
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0

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