A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340684



Internal ID14840954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:344337..344735hg38UCSC Ensembl
Innerchr5:344336..344736hg38UCSC Ensembl
Outerchr5:343337..345735hg38UCSC Ensembl
chr5:344452..344850hg19UCSC Ensembl
Innerchr5:344451..344851hg19UCSC Ensembl
Outerchr5:343452..345850hg19UCSC Ensembl
chr5:397452..397850hg18UCSC Ensembl
Innerchr5:397851..397451hg18UCSC Ensembl
Outerchr5:396452..398850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183e59
Supporting Variantsessv8694763
SamplesNA12878
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340684
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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