A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325241



Internal ID14825522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71022534..71022534hg38UCSC Ensembl
Innerchr4:71022533..71022535hg38UCSC Ensembl
Outerchr4:71022474..71022584hg38UCSC Ensembl
chr4:71888251..71888251hg19UCSC Ensembl
Innerchr4:71888250..71888252hg19UCSC Ensembl
Outerchr4:71888191..71888301hg19UCSC Ensembl
chr4:72107115..72107115hg18UCSC Ensembl
Innerchr4:72107116..72107114hg18UCSC Ensembl
Outerchr4:72107055..72107165hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8834438
SamplesNA12878
Known GenesDCK
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325241
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