A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365731



Internal ID5367547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6889022..7144104hg38UCSC Ensembl
chr16:6939023..7194105hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38255083
hg19255083
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637775
Supporting Variants
SamplesHG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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