A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745558



Internal ID9979842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11267456..11393743hg38UCSC Ensembl
Outerchr12:11420390..11546677hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38126288
hg19126288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e201
Supporting Variantsessv6775695, essv6897646, essv6971263, essv6970796, essv6812208, essv6815460, essv6870732, essv6924334, essv6920175, essv6927925, essv6805632, essv6677803, essv6721820, essv6768500, essv6862361, essv6709484, essv6831304, essv6920176, essv6691592, essv6851158, essv6796019, essv6791849, essv6873678, essv6867141, essv6803498, essv6771932, essv6827688, essv6882308, essv6959246, essv6695531, essv6805643, essv6908863, essv6783557, essv6681564, essv6796021, essv6732126, essv6865543, essv6842434, essv6688282, essv6673128, essv6887995, essv6908861, essv6823612, essv6738376, essv6702441, essv6908584, essv6712983, essv6687376, essv6809369, essv6949083, essv6845942, essv6900638, essv6716790, essv6698743, essv6885079, essv6800209, essv6931833, essv6834875, essv6724491, essv6779451, essv6728324, essv6904910, essv6940335, essv6720679, essv6783558, essv6838616, essv6806381, essv6721709, essv6916117, essv6728325, essv6857175, essv6867144, essv6953218, essv6939017
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM074, SSM042, SSM088, SSM002, SSM041, SSM028, SSM084, SSM090, SSM047, SSM018, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043
Known GenesPRB1, PRB2, PRB3, PRB4
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)esv2745558
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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