A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738166



Internal ID10321802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6276177..6276577hg38UCSC Ensembl
Outerchr9:6276177..6276577hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1252e201
Supporting Variantsessv6775232, essv6861751, essv6683943, essv6681107, essv6677295, essv6823116, essv6870358, essv6866481, essv6720192, essv6908341, essv6879126, essv6831231, essv6964919, essv6845550, essv6787205, essv6819068, essv6691158, essv6881956, essv6778942, essv6743655, essv6931260, essv6894191, essv6887604, essv6782993, essv6834434, essv6923770, essv6768105, essv6740617, essv6689376, essv6803111, essv6694989, essv6746452, essv6734465, essv6850356, essv6935542, essv6841948, essv6698407, essv6749293, essv6727823, essv6805991, essv6958342, essv6701884, essv6948536, essv6827172, essv6905251, essv6884748, essv6939799, essv6734851, essv6944326, essv6672291, essv6755133, essv6684637, essv6894399, essv6856367, essv6791311, essv6900248, essv6731596, essv6723979, essv6934641, essv6795486
SamplesSSM100, SSM036, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM087, SSM038, SSM039, SSM073, SSM093, SSM074, SSM088, SSM002, SSM023, SSM058, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM096, SSM026, SSM089, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM082, SSM020, SSM007, SSM078, SSM053, SSM005, SSM080, SSM037, SSM022, SSM010, SSM055, SSM070, SSM095, SSM034, SSM052, SSM098, SSM049, SSM056, SSM012
Known Genes
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)esv2738166
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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