A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749756



Internal ID10330726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:60815806..60816798hg38UCSC Ensembl
Outerchr15:61108005..61108997hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv305e201
Supporting Variantsessv6932294, essv6809376, essv6953675, essv6665314, essv6706571, essv6879780, essv6971266, essv6755883, essv6846269, essv6897945, essv6702861, essv6862890, essv6842867, essv6876992, essv6772485, essv6953674, essv6776078, essv6763644, essv6796437, essv6901705, essv6815806, essv6928273, essv6685439, essv6673834, essv6775831, essv6717206, essv6885351, essv6673835, essv6909277, essv6681952, essv6949517, essv6857853, essv6744311, essv6766004, essv6746931, essv6936591, essv6835259, essv6812520, essv6695999, essv6820190, essv6732527, essv6792269, essv6803789, essv6974673, essv6800641, essv6749978, essv6758511, essv6747147, essv6741475, essv6695997, essv6699033, essv6959967, essv6869387, essv6959966, essv6873983, essv6678231, essv6738192, essv6779865, essv6761272, essv6837754, essv6862889, essv6768815, essv6911319, essv6945420, essv6871045, essv6966452
SamplesSSM059, SSM008, SSM071, SSM027, SSM024, SSM011, SSM064, SSM065, SSM087, SSM038, SSM039, SSM009, SSM073, SSM093, SSM050, SSM088, SSM002, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM061, SSM029, SSM062, SSM026, SSM019, SSM032, SSM031, SSM067, SSM001, SSM014, SSM033, SSM066, SSM085, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM053, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM056, SSM063, SSM012
Known GenesRORA
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)esv2749756
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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