A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744423



Internal ID9978707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45101700..45101795hg38UCSC Ensembl
Outerchr11:45123251..45123346hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866961, essv6819529
SamplesSSM078, SSM089
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)esv2744423
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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