A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442711



Internal ID14942978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130251..79131159hg38UCSC Ensembl
Innerchr5:79130251..79131159hg38UCSC Ensembl
Outerchr5:79130214..79131269hg38UCSC Ensembl
chr5:78426074..78426982hg19UCSC Ensembl
Innerchr5:78426074..78426982hg19UCSC Ensembl
Outerchr5:78426037..78427092hg19UCSC Ensembl
chr5:78461830..78462738hg18UCSC Ensembl
Innerchr5:78461830..78462738hg18UCSC Ensembl
Outerchr5:78461793..78462848hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38909
hg19909
hg18909
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652301
SamplesNA19240
Known GenesBHMT
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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