A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11361133



Internal ID4487753
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599784
Supporting Variants
SamplesHG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11361133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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