A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744422



Internal ID9978706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45101672..45102549hg38UCSC Ensembl
Outerchr11:45123223..45124100hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137e201
Supporting Variantsessv6763291, essv6866961, essv6743921, essv6908714, essv6876545, essv6731985, essv6904772, essv6746723, essv6770631, essv6862214, essv6672925, essv6908715, essv6819529, essv6976908, essv6850961
SamplesSSM092, SSM013, SSM053, SSM086, SSM055, SSM078, SSM088, SSM089, SSM031, SSM062, SSM029, SSM047, SSM014, SSM008
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)esv2744422
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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