A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380469



Internal ID14880742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41453736..41454934hg38UCSC Ensembl
Innerchr6:41453934..41454736hg38UCSC Ensembl
Outerchr6:41452736..41455934hg38UCSC Ensembl
chr6:41421474..41422672hg19UCSC Ensembl
Innerchr6:41421672..41422474hg19UCSC Ensembl
Outerchr6:41420474..41423672hg19UCSC Ensembl
chr6:41529452..41530650hg18UCSC Ensembl
Innerchr6:41530452..41529650hg18UCSC Ensembl
Outerchr6:41528452..41531650hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695302
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380469
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