A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418708



Internal ID15265666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49519178..49549176hg38UCSC Ensembl
Innerchr4:49520178..49548176hg38UCSC Ensembl
Outerchr4:49518178..49550176hg38UCSC Ensembl
chr4:49521195..49551193hg19UCSC Ensembl
Innerchr4:49522195..49550193hg19UCSC Ensembl
Outerchr4:49520195..49552193hg19UCSC Ensembl
chr4:49215952..49245950hg18UCSC Ensembl
Innerchr4:49216952..49244950hg18UCSC Ensembl
Outerchr4:49214952..49246950hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3829999
hg1929999
hg1829999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2978e59
Supporting Variantsessv8694438
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418708
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