A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745827



Internal ID10326797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43260601..43260959hg38UCSC Ensembl
Outerchr12:43654404..43654762hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882330, essv6834897, essv6916137, essv6724517, essv6851202, essv6823639, essv6894663, essv6783574, essv6796044, essv6775715, essv6827717, essv6800233, essv6702468, essv6908901, essv6900657, essv6787768, essv6870749, essv6891303, essv6885096, essv6831317, essv6791868, essv6698762, essv6806397, essv6953242, essv6688307, essv6857222, essv6709511, essv6897661, essv6713010, essv6720701, essv6677831, essv6845961, essv6970825, essv6959287, essv6862406, essv6741082, essv6931863, essv6867180, essv6779473, essv6706226, essv6912615, essv6873695, essv6865821, essv6879508, essv6977211, essv6904926
SamplesSSM100, SSM071, SSM045, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM041, SSM028, SSM090, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM067, SSM044, SSM014, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM080, SSM091, SSM070, SSM095, SSM025, SSM099, SSM052, SSM098
Known Genes
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)esv2745827
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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