A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428767



Internal ID15275723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1984702..1984702hg38UCSC Ensembl
Innerchr5:1984701..1984703hg38UCSC Ensembl
Outerchr5:1984642..1984752hg38UCSC Ensembl
chr5:1984816..1984816hg19UCSC Ensembl
Innerchr5:1984815..1984817hg19UCSC Ensembl
Outerchr5:1984756..1984866hg19UCSC Ensembl
chr5:2037816..2037816hg18UCSC Ensembl
Innerchr5:2037817..2037815hg18UCSC Ensembl
Outerchr5:2037756..2037866hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8836010
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428767
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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