A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599469



Internal ID6986515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4942171..4963947hg38UCSC Ensembl
Innerchr4:4942181..4963938hg38UCSC Ensembl
Outerchr4:4942162..4963957hg38UCSC Ensembl
chr4:4943898..4965674hg19UCSC Ensembl
Innerchr4:4943908..4965665hg19UCSC Ensembl
Outerchr4:4943889..4965684hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3821777
hg1921777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11326177, essv11326178
SamplesHG02309, HG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599469
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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