A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309218



Internal ID15156167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42514563..42514564hg38UCSC Ensembl
Innerchr6:42514541..42514586hg38UCSC Ensembl
Outerchr6:42514540..42514587hg38UCSC Ensembl
chr6:42482301..42482302hg19UCSC Ensembl
Innerchr6:42482279..42482324hg19UCSC Ensembl
Outerchr6:42482278..42482325hg19UCSC Ensembl
chr6:42590279..42590280hg18UCSC Ensembl
Innerchr6:42590302..42590257hg18UCSC Ensembl
Outerchr6:42590256..42590303hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38703
hg19703
hg18703
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839373, essv7839529
SamplesNA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309218
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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