A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744428



Internal ID9978712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45111219..45111395hg38UCSC Ensembl
Outerchr11:45132770..45132946hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819530, essv6965559, essv6866962, essv6862215, essv6672926
SamplesSSM027, SSM078, SSM088, SSM089, 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)esv2744428
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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