A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637760



Internal ID6677861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6726984..6729354hg38UCSC Ensembl
Innerchr16:6726984..6729354hg38UCSC Ensembl
Outerchr16:6726831..6729505hg38UCSC Ensembl
chr16:6776985..6779355hg19UCSC Ensembl
Innerchr16:6776985..6779355hg19UCSC Ensembl
Outerchr16:6776832..6779506hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382371
hg192371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364829, essv15364828, essv15364827
SamplesNA19012, NA20522, NA18501
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637760
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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