A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637782



Internal ID6677883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6948846..6953360hg38UCSC Ensembl
Innerchr16:6948874..6953333hg38UCSC Ensembl
Outerchr16:6948819..6953388hg38UCSC Ensembl
chr16:6998847..7003361hg19UCSC Ensembl
Innerchr16:6998875..7003334hg19UCSC Ensembl
Outerchr16:6998820..7003389hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384515
hg194515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15365807, essv15365808
SamplesHG01942, HG02274
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637782
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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