A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637753



Internal ID6677854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6613586..6626675hg38UCSC Ensembl
Innerchr16:6613736..6626525hg38UCSC Ensembl
Outerchr16:6613436..6626825hg38UCSC Ensembl
chr16:6663587..6676676hg19UCSC Ensembl
Innerchr16:6663737..6676526hg19UCSC Ensembl
Outerchr16:6663437..6676826hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3813090
hg1913090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364808, essv15364807
SamplesHG04188, HG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637753
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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