A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675463



Internal ID9941568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180120130..180122745hg38UCSC Ensembl
Outerchr4:180119973..180122898hg38UCSC Ensembl
Innerchr4:181041283..181043898hg19UCSC Ensembl
Outerchr4:181041126..181044051hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg382926
hg192926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5549500, essv6580295, essv6293745, essv6562770, essv5398533
SamplesNA12751, HG01440, HG00182, HG00146, NA19652
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675463
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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