A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717626



Internal ID9951917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79245771..79246495hg38UCSC Ensembl
Outerchr18:77005771..77006495hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928657, essv6733004, essv6735715, essv6874295, essv6784472, essv6750263, essv6868189, essv6846581, essv6960735, essv6747426, essv6905704, essv6780330, essv6729139, essv6761559, essv6895413, essv6832130, essv6769156, essv6682392, essv6812825, essv6692316, essv6820666, essv6716043, essv6741773, essv6776514, essv6858515, essv6758779, essv6792760, essv6824482, essv6843352, essv6756194, essv6891968, essv6941272, essv6717680, essv6971744, essv6937114, essv6835699, essv6954170, essv6744601, essv6967199, essv6801152, essv6713773, essv6766239, essv6721529, essv6945947, essv6812909, essv6771042, essv6788657, essv6852557, essv6898248, essv6877317, essv6703370, essv6913491, essv6839473, essv6744876, essv6949998, essv6807006, essv6710207, essv6902087, essv6763900, essv6738481, essv6666152, essv6901257, essv6696483, essv6816177, essv6772954, essv6753181, essv6921129, essv6946018, essv6688957, essv6932800
SamplesSSM100, SSM059, SSM036, SSM083, SSM027, SSM024, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM050, SSM074, SSM042, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM003, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM025, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesATP9B
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)esv2717626
Frequency
Sample Size96
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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