A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637744



Internal ID6677845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6271375..6275264hg38UCSC Ensembl
Innerchr16:6271375..6275264hg38UCSC Ensembl
Outerchr16:6271050..6275611hg38UCSC Ensembl
chr16:6321376..6325265hg19UCSC Ensembl
Innerchr16:6321376..6325265hg19UCSC Ensembl
Outerchr16:6321051..6325612hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383890
hg193890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364750
SamplesHG00154
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637744
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