A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11733307



Internal ID3841181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184013330..184015760hg38UCSC Ensembl
Innerchr4:184013346..184015744hg38UCSC Ensembl
Outerchr4:184013314..184015776hg38UCSC Ensembl
chr4:184934483..184936913hg19UCSC Ensembl
Innerchr4:184934499..184936897hg19UCSC Ensembl
Outerchr4:184934467..184936929hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382431
hg192431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603450
Supporting Variants
SamplesHG03476
Known GenesSTOX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11733307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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