A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599687



Internal ID6986732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12705628..12733130hg38UCSC Ensembl
Innerchr4:12705640..12733119hg38UCSC Ensembl
Outerchr4:12705617..12733142hg38UCSC Ensembl
chr4:12707252..12734754hg19UCSC Ensembl
Innerchr4:12707264..12734743hg19UCSC Ensembl
Outerchr4:12707241..12734766hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3827503
hg1927503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11359086
SamplesHG02813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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