A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596134



Internal ID6636407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49942379..49946146hg38UCSC Ensembl
Innerchr3:49942879..49945646hg38UCSC Ensembl
Outerchr3:49941379..49947146hg38UCSC Ensembl
chr3:49979812..49983579hg19UCSC Ensembl
Innerchr3:49980312..49983079hg19UCSC Ensembl
Outerchr3:49978812..49984579hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383768
hg193768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11010069
SamplesHG03869
Known GenesRBM6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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