A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599711



Internal ID6986756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13986146..14031435hg38UCSC Ensembl
Innerchr4:13986296..14031285hg38UCSC Ensembl
Outerchr4:13985996..14031585hg38UCSC Ensembl
chr4:13987770..14033059hg19UCSC Ensembl
Innerchr4:13987920..14032909hg19UCSC Ensembl
Outerchr4:13987620..14033209hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3845290
hg1945290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv986e214
Supporting Variantsessv11359376, essv11359377
SamplesHG01303, NA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599711
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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