A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494450



Internal ID1496266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70933614..70934523hg38UCSC Ensembl
Innerchr4:70933657..70934481hg38UCSC Ensembl
Outerchr4:70933572..70934566hg38UCSC Ensembl
chr4:71799331..71800240hg19UCSC Ensembl
Innerchr4:71799374..71800198hg19UCSC Ensembl
Outerchr4:71799289..71800283hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600942
Supporting Variants
SamplesNA18595
Known GenesMOB1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494450
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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