A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744421



Internal ID9978705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45101473..45102411hg38UCSC Ensembl
Outerchr11:45123024..45123962hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38939
hg19939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137e201
Supporting Variantsessv6924189, essv6845840, essv6758117, essv6940177, essv6760857, essv6866961, essv6716648, essv6819529, essv6800056, essv6838485, essv6752461, essv6833732, essv6904772, essv6731985, essv6908714, essv6876545, essv6787620, essv6850961, essv6775576, essv6710166, essv6897987, essv6755427
SamplesSSM059, SSM083, SSM013, SSM057, SSM058, SSM092, SSM047, SSM018, SSM069, SSM061, SSM089, SSM014, SSM086, SSM066, SSM006, SSM085, SSM072, SSM078, SSM022, SSM010, SSM043, SSM012
Known GenesPRDM11
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)esv2744421
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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