A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745550



Internal ID9979834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11062309..11104626hg38UCSC Ensembl
Outerchr12:11214908..11257225hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3842318
hg1942318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806374, essv6965752, essv6897639, essv6870722, essv6765760, essv6712979, essv6787746, essv6940327, essv6720673, essv6687265, essv6879482, essv6944936, essv6920148, essv6695529, essv6720676, essv6938951, essv6977133, essv6865488, essv6857172, essv6851151, essv6920166, essv6783556, essv6970984, essv6882307, essv6834765, essv6827685, essv6732119, essv6724489, essv6857170, essv6677801, essv6838609, essv6712980, essv6709482, essv6760961, essv6719820, essv6805587, essv6924325, essv6779440, essv6744015, essv6775692, essv6908859, essv6771919, essv6698738, essv6691590, essv6809365, essv6870721, essv6668205, essv6949078, essv6685070, essv6796015, essv6772039, essv6755522, essv6688278, essv6912583, essv6738209, essv6936106, essv6702437, essv6806378, essv6953215, essv6738342, essv6965756, essv6931826, essv6897641, essv6779450, essv6735161, essv6800206, essv6706210, essv6695528, essv6971217, essv6763388, essv6760963, essv6912588, essv6787745
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM065, SSM087, SSM038, SSM039, SSM009, SSM093, SSM074, SSM042, SSM041, SSM023, SSM058, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM017, SSM035, SSM094, SSM032, SSM003, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM068, SSM040, SSM072, SSM020, SSM007, SSM015, SSM053, SSM005, SSM080, SSM037, SSM022, SSM010, SSM025, SSM034, SSM004, SSM099, SSM049, SSM030, SSM063
Known GenesPRH1-PRR4, TAS2R43
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)esv2745550
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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