A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745867



Internal ID9980151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49878022..49879478hg38UCSC Ensembl
Outerchr12:50271805..50273261hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381457
hg191457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916144, essv6900662, essv6709516, essv6815483, essv6899510, essv6695563, essv6857232, essv6787774, essv6949108, essv6677838, essv6809400, essv6695564, essv6698764, essv6812235, essv6806403, essv6738586, essv6851208, essv6851207, essv6900661, essv6842456, essv6681597, essv6897666, essv6749698, essv6908806, essv6939207, essv6760990, essv6724523, essv6845966, essv6706230, essv6838639, essv6879513, essv6876679, essv6744039, essv6737904, essv6834904, essv6862412, essv6796053, essv6944977, essv6920199, essv6803526, essv6752584, essv6720706, essv6894669, essv6819718, essv6891307, essv6965798, essv6775721, essv6688312, essv6940357, essv6765780, essv6831323, essv6673176, essv6823647, essv6888017, essv6931868, essv6685104, essv6823646, essv6711210, essv6677839, essv6862413, essv6865865, essv6894668, essv6867185, essv6888016, essv6735201, essv6728347, essv6977221, essv6779478, essv6924365, essv6838640, essv6959294, essv6720707, essv6908904, essv6772187, essv6791874, essv6691623, essv6796052
SamplesSSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM006, SSM036, SSM033, SSM084, SSM061, SSM099, SSM040, SSM078, SSM088, SSM089, SSM031, SSM035, SSM020, SSM071, SSM016, SSM057, SSM032, SSM024, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM077, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM011, SSM066, SSM029, SSM003, SSM073, SSM069, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM044, SSM074, SSM075, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM081, SSM070
Known GenesFAIM2
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)esv2745867
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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