A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837836



Internal ID13720478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60793270..60793271hg38UCSC Ensembl
Innerchr13:60793242..60793299hg38UCSC Ensembl
Outerchr13:60793241..60793300hg38UCSC Ensembl
chr13:61367404..61367405hg19UCSC Ensembl
Innerchr13:61367376..61367433hg19UCSC Ensembl
Outerchr13:61367375..61367434hg19UCSC Ensembl
chr13:60265405..60265406hg18UCSC Ensembl
Innerchr13:60265434..60265377hg18UCSC Ensembl
Outerchr13:60265376..60265435hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308008
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837836
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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