A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600465



Internal ID6987508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48476093..48478417hg38UCSC Ensembl
Innerchr4:48476107..48478403hg38UCSC Ensembl
Outerchr4:48476079..48478431hg38UCSC Ensembl
chr4:48478110..48480434hg19UCSC Ensembl
Innerchr4:48478124..48480420hg19UCSC Ensembl
Outerchr4:48478096..48480448hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11429528
SamplesNA20845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600465
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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