A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745509



Internal ID9979793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864303..8865447hg38UCSC Ensembl
Outerchr12:9016899..9018043hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765749, essv6842410, essv6724471, essv6938740, essv6760950, essv6959217, essv6772022, essv6920141, essv6691574, essv6805343, essv6940305, essv6737868, essv6771664, essv6834861, essv6758207, essv6949062, essv6768477, essv6755513, essv6741045, essv6710888, essv6931809, essv6763371, essv6735157, essv6719264, essv6706191, essv6806357, essv6970929, essv6912565, essv6744004, essv6787732, essv6685057, essv6749662, essv6845929, essv6681544, essv6668198, essv6924303, essv6944902, essv6775672, essv6908440, essv6716764, essv6834710, essv6851127, essv6857149, essv6738054, essv6695517, essv6899032, essv6712963, essv6819657, essv6800189, essv6732092, essv6752546, essv6803480, essv6936094, essv6746817, essv6977123, essv6965735, essv6916097, essv6970771, essv6953194, essv6876637, essv6815441, essv6728308, essv6927902, essv6779434, essv6873649, essv6897624
SamplesSSM059, SSM036, SSM008, SSM027, SSM024, SSM045, SSM046, SSM064, SSM065, SSM087, SSM009, SSM073, SSM050, SSM074, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM067, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesA2ML1
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)esv2745509
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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