A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659741



Internal ID9925846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16408564..16408863hg38UCSC Ensembl
chr3:16450071..16450370hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5809161, essv5576536, essv5694775, essv5396993, essv6067613, essv6064563, essv5706353, essv6255328, essv6464544, essv6586440, essv5758183, essv6537365, essv6001952, essv6429409, essv6288673, essv6577179, essv5965193, essv6419164, essv6139294
SamplesHG01389, HG01492, HG01354, HG00369, HG00185, HG00139, HG01080, HG00108, HG01384, HG00344, HG00263, HG01102, HG00140, HG01107, HG01204, HG00278, HG00237, HG00343, NA19463
Known GenesRFTN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659741
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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