A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677960



Internal ID9944065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129663990..129666814hg38UCSC Ensembl
chr4:130585145..130587969hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg382825
hg192825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6093560, essv5400049, essv5955813, essv5979509, essv5890073, essv6203737, essv6157597, essv5750111
SamplesNA19920, NA19381, NA19130, NA19917, NA19921, NA18856, NA18853, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677960
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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