A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637770



Internal ID6677871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6799188..6903566hg38UCSC Ensembl
Innerchr16:6799199..6903556hg38UCSC Ensembl
Outerchr16:6799178..6903577hg38UCSC Ensembl
chr16:6849189..6953567hg19UCSC Ensembl
Innerchr16:6849200..6953557hg19UCSC Ensembl
Outerchr16:6849179..6953578hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38104379
hg19104379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365601, essv15365600, essv15365599
SamplesHG03237, HG00311, HG02108
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637770
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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