A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747041



Internal ID10328011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36957402..36959844hg38UCSC Ensembl
Outerchr1:37423003..37425445hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382443
hg192443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e201
Supporting Variantsessv6917465, essv6877679, essv6853270, essv6885998, essv6910075, essv6725869, essv6793317, essv6941813, essv6807389, essv6914017, essv6675222, essv6816611, essv6738829, essv6780902, essv6773458, essv6950589, essv6863980, essv6813189, essv6789182, essv6679195, essv6668985, essv6816609, essv6863979, essv6847051, essv6929088, essv6710613, essv6929089, essv6675221, essv6853269, essv6797473, essv6718180, essv6914019, essv6759071, essv6692799, essv6785013, essv6950451, essv6874726, essv6821201, essv6719109, essv6843915, essv6937702, essv6929087, essv6803376, essv6785014, essv6669432, essv6729649, essv6692800, essv6871735, essv6972394, essv6853271, essv6748710, essv6773459, essv6898625, essv6967961, essv6829030, essv6937703, essv6801635, essv6776959, essv6941812, essv6668986, essv6695865, essv6972393, essv6917466, essv6769551, essv6710614, essv6883268, essv6750627, essv6925713, essv6843916
SamplesSSM100, SSM008, SSM071, SSM075, SSM046, SSM079, SSM065, SSM087, SSM073, SSM093, SSM042, SSM002, SSM057, SSM023, SSM028, SSM092, SSM047, SSM069, SSM061, SSM029, SSM096, SSM089, SSM017, SSM019, SSM032, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM037, SSM077, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, SSM052
Known GenesGRIK3
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)esv2747041
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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