A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212477



Internal ID5534838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73849731..73850376hg38UCSC Ensembl
Innerchr11:73849733..73850374hg38UCSC Ensembl
Outerchr11:73849729..73850378hg38UCSC Ensembl
chr11:73560776..73561421hg19UCSC Ensembl
Innerchr11:73560778..73561419hg19UCSC Ensembl
Outerchr11:73560774..73561423hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626822
Supporting Variants
SamplesNA18999
Known GenesMRPL48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212477
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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