A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635616



Internal ID7022415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104066721..104089707hg38UCSC Ensembl
Innerchr14:104066871..104089557hg38UCSC Ensembl
Outerchr14:104066571..104089857hg38UCSC Ensembl
chr14:104533058..104556044hg19UCSC Ensembl
Innerchr14:104533208..104555894hg19UCSC Ensembl
Outerchr14:104532908..104556194hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3822987
hg1922987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15114691, essv15114690, essv15114689
SamplesHG03163, NA12341, NA06984
Known GenesASPG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635616
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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