A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11493286



Internal ID5426479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69661584..69665436hg38UCSC Ensembl
Innerchr4:69661614..69665407hg38UCSC Ensembl
Outerchr4:69661555..69665466hg38UCSC Ensembl
chr4:70527302..70531154hg19UCSC Ensembl
Innerchr4:70527332..70531125hg19UCSC Ensembl
Outerchr4:70527273..70531184hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600920
Supporting Variants
SamplesNA18953
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11493286
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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