A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637766



Internal ID6677867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6780976..6801022hg38UCSC Ensembl
Innerchr16:6781476..6800522hg38UCSC Ensembl
Outerchr16:6779976..6802022hg38UCSC Ensembl
chr16:6830977..6851023hg19UCSC Ensembl
Innerchr16:6831477..6850523hg19UCSC Ensembl
Outerchr16:6829977..6852023hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3820047
hg1920047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365540, essv15365536, essv15365535, essv15365537, essv15365534, essv15365538, essv15365539
SamplesHG03237, HG00311, HG00290, HG03718, HG01880, NA20522, HG03196
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637766
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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