A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744426



Internal ID9978710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45102116..45102198hg38UCSC Ensembl
Outerchr11:45123667..45123749hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862214, essv6672925
SamplesSSM088, SSM031
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)esv2744426
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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