A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11733520



Internal ID1735336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184706906..184707423hg38UCSC Ensembl
Innerchr4:184706911..184707419hg38UCSC Ensembl
Outerchr4:184706902..184707428hg38UCSC Ensembl
chr4:185628060..185628577hg19UCSC Ensembl
Innerchr4:185628065..185628573hg19UCSC Ensembl
Outerchr4:185628056..185628582hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603466
Supporting Variants
SamplesNA19119
Known GenesCENPU
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11733520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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