A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745548



Internal ID9979832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11048870..11078486hg38UCSC Ensembl
Outerchr12:11201469..11231085hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3829617
hg1929617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749670, essv6916115, essv6920159, essv6940324, essv6834809, essv6706211, essv6711055, essv6720708, essv6716782, essv6944939, essv6772038, essv6765758, essv6920162, essv6803490, essv6938984, essv6721154, essv6842422, essv6755533, essv6842426, essv6831297, essv6746834, essv6971095, essv6927919, essv6805610, essv6944931, essv6977141, essv6791841, essv6851145, essv6904908, essv6971084, essv6936108, essv6931827, essv6920165, essv6681559, essv6899177, essv6897630, essv6851144, essv6752554, essv6938906, essv6940325, essv6916111, essv6838604, essv6744013, essv6940326, essv6912584, essv6867134, essv6862352, essv6924326, essv6938962, essv6916114, essv6873669, essv6775693, essv6899155, essv6746823, essv6971239, essv6805521, essv6815455, essv6772037, essv6711044, essv6834832, essv6737878, essv6971195, essv6879481, essv6732117, essv6775689, essv6758217, essv6741059, essv6959234, essv6716786, essv6870719, essv6834843, essv6803491, essv6763386, essv6965750, essv6970786, essv6771808, essv6876653, essv6712978, essv6959236, essv6977142, essv6771731, essv6949080, essv6724484, essv6738198, essv6908857, essv6688276, essv6668205, essv6882306, essv6800203, essv6949077, essv6897638, essv6870714, essv6721265, essv6904905, essv6771797, essv6970787, essv6857169, essv6791842, essv6842427, essv6738309, essv6944935, essv6920164, essv6845938, essv6735174, essv6899188, essv6787743, essv6772035, essv6741060, essv6763385, essv6779449, essv6755530, essv6738109, essv6965753, essv6687253, essv6931824, essv6873661, essv6953214, essv6763384, essv6873670, essv6735177, essv6857167, essv6924323, essv6732114
SamplesSSM059, SSM008, SSM083, SSM027, SSM024, SSM045, SSM065, SSM087, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM003, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesPRH1-PRR4, TAS2R46
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)esv2745548
Frequency
Sample Size96
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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