A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379835



Internal ID14880107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25124582..25124594hg38UCSC Ensembl
Innerchr6:25124573..25124600hg38UCSC Ensembl
Outerchr6:25124564..25124612hg38UCSC Ensembl
chr6:25124810..25124822hg19UCSC Ensembl
Innerchr6:25124801..25124828hg19UCSC Ensembl
Outerchr6:25124792..25124840hg19UCSC Ensembl
chr6:25232789..25232801hg18UCSC Ensembl
Innerchr6:25232807..25232780hg18UCSC Ensembl
Outerchr6:25232771..25232819hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676354, essv8676352
SamplesNA19239, NA19240
Known GenesCMAHP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379835
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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