A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599412



Internal ID6639677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2940424..3030117hg38UCSC Ensembl
Innerchr4:2940574..3029967hg38UCSC Ensembl
Outerchr4:2940274..3030267hg38UCSC Ensembl
chr4:2942151..3031844hg19UCSC Ensembl
Innerchr4:2942301..3031694hg19UCSC Ensembl
Outerchr4:2942001..3031994hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3889694
hg1989694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317186, essv11317185
SamplesHG01610, HG00732
Known GenesGRK4, NOP14, NOP14-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599412
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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