A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212730



Internal ID4214546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73881424..73885288hg38UCSC Ensembl
Innerchr11:73881465..73885248hg38UCSC Ensembl
Outerchr11:73881384..73885329hg38UCSC Ensembl
chr11:73592469..73596333hg19UCSC Ensembl
Innerchr11:73592510..73596293hg19UCSC Ensembl
Outerchr11:73592429..73596374hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383865
hg193865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626826
Supporting Variants
SamplesNA20899
Known GenesPAAF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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