A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7839529



Internal ID13620662
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 StatusS
Merged Variantsesv3309218
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7839529
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer