A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637768



Internal ID6677869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6792563..6803841hg38UCSC Ensembl
Innerchr16:6792591..6803813hg38UCSC Ensembl
Outerchr16:6792535..6803869hg38UCSC Ensembl
chr16:6842564..6853842hg19UCSC Ensembl
Innerchr16:6842592..6853814hg19UCSC Ensembl
Outerchr16:6842536..6853870hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811279
hg1911279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365547, essv15365553, essv15365551, essv15365552, essv15365549, essv15365550, essv15365546, essv15365548
SamplesHG03237, NA20756, HG00311, HG00290, HG02820, NA19184, HG01880, NA20522
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637768
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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