A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718568



Internal ID10302204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40834053..40875511hg38UCSC Ensembl
Outerchr19:41339958..41381416hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3841459
hg1941459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699413, essv6909799, essv6871496, essv6666977, essv6717855, essv6741914, essv6756350, essv6733192, essv6961026, essv6914841, essv6874457, essv6937348, essv6735829, essv6841897, essv6689076, essv6801330, essv6747582, essv6776692, essv6832306, essv6783376, essv6764026, essv6696717, essv6694199, essv6828737, essv6725523, essv6954379, essv6750402, essv6843553, essv6925378, essv6913702, essv6692469, essv6871497, essv6717187, essv6832305, essv6868427, essv6780518, essv6699411, essv6950203, essv6699412, essv6874455, essv6885784, essv6874456, essv6682574, essv6703566, essv6883072, essv6812969, essv6746287, essv6753317, essv6816335, essv6788840, essv6707041, essv6824674, essv6682573, essv6846740, essv6773150, essv6792948, essv6746298, essv6717856, essv6880240, essv6741913, essv6666485, essv6784670, essv6835885, essv6678882, essv6761677, essv6932975, essv6901406, essv6820909, essv6877456, essv6744739, essv6946150, essv6858793, essv6761678, essv6685933, essv6971956, essv6828738, essv6750401, essv6928804, essv6839673, essv6710350, essv6921377, essv6824673, essv6764027, essv6902259, essv6773151, essv6729338, essv6766365, essv6905856, essv6781743, essv6804223, essv6880241, essv6917141
SamplesSSM100, SSM036, SSM008, SSM083, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM073, SSM093, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM067, SSM001, SSM014, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesCYP2A6, CYP2A7
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)esv2718568
Frequency
Sample Size96
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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