A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11473943



Internal ID4228678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:66664139..66673611hg38UCSC Ensembl
Innerchr4:66664639..66673111hg38UCSC Ensembl
Outerchr4:66663139..66674611hg38UCSC Ensembl
chr4:67529857..67539329hg19UCSC Ensembl
Innerchr4:67530357..67538829hg19UCSC Ensembl
Outerchr4:67528857..67540329hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg389473
hg199473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600825
Supporting Variants
SamplesHG03803
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11473943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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