A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596135



Internal ID6983452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49948595..49955755hg38UCSC Ensembl
Innerchr3:49949095..49955255hg38UCSC Ensembl
Outerchr3:49947595..49956755hg38UCSC Ensembl
chr3:49986028..49993188hg19UCSC Ensembl
Innerchr3:49986528..49992688hg19UCSC Ensembl
Outerchr3:49985028..49994188hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387161
hg197161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11010079, essv11010073, essv11010083, essv11010070, essv11010075, essv11010071, essv11010076, essv11010072, essv11010081, essv11010085, essv11010082, essv11010078, essv11010074, essv11010080, essv11010077, essv11010084
SamplesNA18621, NA18979, HG00457, NA19057, NA18633, HG00355, NA18954, NA18638, NA18648, NA18747, NA19082, NA18548, NA18952, NA19010, NA19080, NA18983
Known GenesRBM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596135
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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