A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521284



Internal ID4852929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83941566..83946851hg38UCSC Ensembl
Innerchr4:83942066..83946351hg38UCSC Ensembl
Outerchr4:83940566..83947851hg38UCSC Ensembl
chr4:84862719..84868004hg19UCSC Ensembl
Innerchr4:84863219..84867504hg19UCSC Ensembl
Outerchr4:84861719..84869004hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg385286
hg195286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601207
Supporting Variants
SamplesNA12273
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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