A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9623880



Internal ID13593161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110750209..110750228hg38UCSC Ensembl
Innerchr5:110750205..110750232hg38UCSC Ensembl
Outerchr5:110750186..110750251hg38UCSC Ensembl
chr5:110085909..110085928hg19UCSC Ensembl
Innerchr5:110085905..110085932hg19UCSC Ensembl
Outerchr5:110085886..110085951hg19UCSC Ensembl
chr5:110113808..110113827hg18UCSC Ensembl
Innerchr5:110113831..110113804hg18UCSC Ensembl
Outerchr5:110113785..110113850hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391906
Supporting Variants
SamplesNA12812
Known GenesSLC25A46
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9623880
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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