A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739143



Internal ID9973484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132821356..132822547hg38UCSC Ensembl
Outerchr9:135696743..135697934hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935640, essv6915781, essv6862509, essv6952791, essv6948635, essv6787330, essv6944453, essv6743736, essv6760679, essv6752267, essv6958536, essv6935661, essv6856553, essv6830928, essv6939911, essv6735388, essv6811924, essv6904535, essv6691249, essv6834534, essv6684745, essv6842038, essv6827286, essv6727939, essv6815106, essv6912184, essv6771657, essv6705842, essv6970336, essv6968107, essv6716349, essv6876359, essv6783106, essv6908459, essv6712645, essv6672482, essv6720303, essv6919724, essv6802599, essv6861880, essv6724100, essv6749377, essv6737604, essv6931391, essv6791425, essv6757952, essv6734919, essv6873394, essv6731703, essv6895554, essv6677417, essv6831977, essv6740723, essv6779052, essv6803207, essv6890923, essv6845636, essv6687967, essv6765531, essv6866616, essv6681206, essv6866615, essv6927571, essv6908458, essv6827288, essv6884822, essv6698483, essv6897350, essv6809079, essv6819202, essv6755223, essv6976355, essv6763128, essv6890924, essv6923893, essv6795609
SamplesSSM059, SSM036, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM033, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesAK8
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)esv2739143
Frequency
Sample Size96
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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