A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747063



Internal ID10328033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36957741..36960062hg38UCSC Ensembl
Outerchr1:37423342..37425663hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e201
Supporting Variantsessv6843916, essv6921749, essv6917465, essv6877679, essv6853270, essv6941814, essv6950590, essv6906112, essv6910075, essv6725869, essv6793317, essv6759072, essv6807389, essv6914017, essv6675222, essv6816611, essv6738829, essv6780902, essv6773458, essv6946519, essv6863980, essv6797474, essv6892337, essv6933332, essv6954781, essv6789182, essv6679195, essv6859216, essv6695876, essv6868734, essv6668985, essv6816609, essv6898626, essv6699617, essv6877680, essv6929088, essv6710613, essv6929089, essv6675221, essv6853269, essv6697003, essv6807390, essv6742161, essv6718180, essv6679196, essv6925714, essv6914019, essv6759071, essv6692799, essv6785013, essv6950451, essv6874726, essv6832620, essv6821201, essv6902564, essv6703885, essv6719109, essv6843915, essv6937702, essv6929087, essv6785014, essv6839999, essv6669432, essv6729649, essv6692800, essv6972394, essv6853271, essv6810353, essv6748710, essv6773459, essv6825003, essv6967961, essv6895861, essv6889020, essv6813190, essv6863981, essv6836210, essv6829030, essv6744962, essv6937703, essv6801635, essv6961594, essv6776959, essv6747805, essv6668986, essv6695865, essv6871736, essv6972393, essv6917466, essv6725870, essv6776960, essv6769551, essv6718181, essv6710614, essv6821202, essv6883268, essv6750627, essv6925713
SamplesSSM100, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM067, SSM044, SSM014, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM052, SSM098, SSM056
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)esv2747063
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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