A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14301217



Internal ID4666262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123642765..123643420hg38UCSC Ensembl
Innerchr11:123642778..123643407hg38UCSC Ensembl
Outerchr11:123642752..123643433hg38UCSC Ensembl
chr11:123513473..123514128hg19UCSC Ensembl
Innerchr11:123513486..123514115hg19UCSC Ensembl
Outerchr11:123513460..123514141hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627959
Supporting Variants
SamplesHG04194
Known GenesSCN3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14301217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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