A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390481



Internal ID15237448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2668938..2669836hg38UCSC Ensembl
Innerchr5:2668937..2669837hg38UCSC Ensembl
Outerchr5:2667938..2670836hg38UCSC Ensembl
chr5:2669052..2669950hg19UCSC Ensembl
Innerchr5:2669051..2669951hg19UCSC Ensembl
Outerchr5:2668052..2670950hg19UCSC Ensembl
chr5:2722052..2722950hg18UCSC Ensembl
Innerchr5:2722951..2722051hg18UCSC Ensembl
Outerchr5:2721052..2723950hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3206e59
Supporting Variantsessv8694737
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390481
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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