A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745903



Internal ID10326873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53030030..53030296hg38UCSC Ensembl
Outerchr12:53423814..53424080hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv188e201
Supporting Variantsessv6709518, essv6959299, essv6673180, essv6949111, essv6806404, essv6702474, essv6724154, essv6812237, essv6845967, essv6823648, essv6738599, essv6851213, essv6897668, essv6971562, essv6732149, essv6834905, essv6687577, essv6865876, essv6965800, essv6916147, essv6882335, essv6783582, essv6800236, essv6716816, essv6691624, essv6779482, essv6787779, essv6927951, essv6698767, essv6939240, essv6796056, essv6815485, essv6713016, essv6931870, essv6891308, essv6720710, essv6944980, essv6879515, essv6894671
SamplesSSM036, SSM071, SSM027, SSM024, SSM011, SSM079, SSM038, SSM097, SSM039, SSM093, SSM074, SSM042, SSM041, SSM023, SSM047, SSM069, SSM026, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM085, SSM068, SSM072, SSM082, SSM020, SSM007, SSM016, SSM005, SSM077, SSM076, SSM004, SSM099, SSM043, SSM098
Known GenesEIF4B
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)esv2745903
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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