A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303011



Internal ID15149959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27652779..27652961hg38UCSC Ensembl
Innerchr1:27652870..27652870hg38UCSC Ensembl
Outerchr1:27652679..27653061hg38UCSC Ensembl
chr1:27979290..27979472hg19UCSC Ensembl
Innerchr1:27979381..27979381hg19UCSC Ensembl
Outerchr1:27979190..27979572hg19UCSC Ensembl
chr1:27851877..27852059hg18UCSC Ensembl
Innerchr1:27851968..27851968hg18UCSC Ensembl
Outerchr1:27851777..27852159hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38183
hg19183
hg18183
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736679, essv7731701, essv7736153, essv7737696, essv7736546
SamplesNA19005, NA18582, NA12828, NA18943, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303011
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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