A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11587320



Internal ID4594396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119944279..119945472hg38UCSC Ensembl
Innerchr4:119944286..119945466hg38UCSC Ensembl
Outerchr4:119944273..119945479hg38UCSC Ensembl
chr4:120865434..120866627hg19UCSC Ensembl
Innerchr4:120865441..120866621hg19UCSC Ensembl
Outerchr4:120865428..120866634hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601981
Supporting Variants
SamplesHG04106
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11587320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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