A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664381



Internal ID9930486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:133256538..133261735hg38UCSC Ensembl
Outerchr4:133256374..133261932hg38UCSC Ensembl
Innerchr4:134177693..134182890hg19UCSC Ensembl
Outerchr4:134177529..134183087hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg385559
hg195559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6371671, essv6072294, essv5408078, essv5745902, essv6068416, essv6409208
SamplesNA19703, NA19373, NA19904, HG01134, NA19338, NA19380
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664381
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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