A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369212



Internal ID14869471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29859634..29992350hg38UCSC Ensembl
Innerchr6:29859684..29992300hg38UCSC Ensembl
Outerchr6:29859584..29992400hg38UCSC Ensembl
chr6:29827411..29960127hg19UCSC Ensembl
Innerchr6:29827461..29960077hg19UCSC Ensembl
Outerchr6:29827361..29960177hg19UCSC Ensembl
chr6:29935390..30068106hg18UCSC Ensembl
Innerchr6:29935440..30068056hg18UCSC Ensembl
Outerchr6:29935340..30068156hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38132717
hg19132717
hg18132717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741246
SamplesNA19240
Known GenesHCG4B, HCG9, HLA-A, HLA-H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369212
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