A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745509

Internal ID9979793
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864303..8865447hg38UCSC Ensembl
Outerchr12:9016899..9018043hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959217, essv6931809, essv6746817, essv6845929, essv6834861, essv6842410, essv6977123, essv6752546, essv6803480, essv6970929, essv6805343, essv6738054, essv6949062, essv6760950, essv6728308, essv6749662, essv6668198, essv6876637, essv6685057, essv6724471, essv6819657, essv6965735, essv6691574, essv6800189, essv6772022, essv6710888, essv6944902, essv6681544, essv6768477, essv6719264, essv6758207, essv6927902, essv6924303, essv6741045, essv6732092, essv6908440, essv6779434, essv6755513, essv6899032, essv6712963, essv6744004, essv6706191, essv6771664, essv6695517, essv6815441, essv6716764, essv6857149, essv6735157, essv6916097, essv6938740, essv6970771, essv6851127, essv6897624, essv6775672, essv6940305, essv6834710, essv6763371, essv6737868, essv6936094, essv6920141, essv6912565, essv6873649, essv6806357, essv6765749, essv6787732, essv6953194
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM064, SSM025, SSM072, SSM020, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM050, SSM077, SSM062, SSM012, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM046, SSM019, SSM023, SSM052, SSM074, SSM004, SSM015, SSM026, SSM049, SSM008, SSM018, SSM058, SSM059
Known GenesA2ML1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745509
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0

Hosted by The Centre for Applied Genomics
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