A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637795



Internal ID6677896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7288443..7292024hg38UCSC Ensembl
Innerchr16:7288460..7292007hg38UCSC Ensembl
Outerchr16:7288426..7292041hg38UCSC Ensembl
chr16:7338444..7342025hg19UCSC Ensembl
Innerchr16:7338461..7342008hg19UCSC Ensembl
Outerchr16:7338427..7342042hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383582
hg193582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15366877
SamplesNA20543
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer