A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600942



Internal ID6641200
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11494449, essv11494450
SamplesNA18595, HG00472
Known GenesMOB1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600942
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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