A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637752



Internal ID6677853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6587291..6611475hg38UCSC Ensembl
Innerchr16:6587791..6610975hg38UCSC Ensembl
Outerchr16:6586291..6612475hg38UCSC Ensembl
chr16:6637292..6661476hg19UCSC Ensembl
Innerchr16:6637792..6660976hg19UCSC Ensembl
Outerchr16:6636292..6662476hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3824185
hg1924185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364806, essv15364805
SamplesNA12830, HG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637752
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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