A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744425



Internal ID9978709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45102016..45102199hg38UCSC Ensembl
Outerchr11:45123567..45123750hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862214, essv6672925, essv6908715
SamplesSSM088, SSM031, SSM014
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)esv2744425
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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