A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599784



Internal ID6986829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18119225..18125775hg38UCSC Ensembl
Innerchr4:18119244..18125756hg38UCSC Ensembl
Outerchr4:18119206..18125794hg38UCSC Ensembl
chr4:18120848..18127398hg19UCSC Ensembl
Innerchr4:18120867..18127379hg19UCSC Ensembl
Outerchr4:18120829..18127417hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg386551
hg196551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11361131, essv11361134, essv11361133, essv11361130, essv11361129, essv11361132
SamplesHG03603, HG03885, HG03949, HG02064, HG04014, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599784
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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