A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745859



Internal ID10326829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49076134..49076751hg38UCSC Ensembl
Outerchr12:49469917..49470534hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6908795, essv6724520, essv6819717, essv6758240, essv6749696, essv6772176, essv6711199, essv6746857, essv6806402, essv6738564, essv6977218, essv6834902, essv6668218, essv6953246, essv6940356, essv6755570, essv6681596, essv6971540, essv6735200, essv6723820, essv6760989
SamplesSSM059, SSM008, SSM045, SSM074, SSM002, SSM058, SSM061, SSM029, SSM001, SSM033, SSM006, SSM082, SSM007, SSM078, SSM022, SSM055, SSM025, SSM004, SSM049, SSM056, SSM030
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)esv2745859
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer