A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364823



Internal ID5366639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6725003..6755176hg38UCSC Ensembl
Innerchr16:6725003..6755176hg38UCSC Ensembl
Outerchr16:6724503..6755676hg38UCSC Ensembl
chr16:6775004..6805177hg19UCSC Ensembl
Innerchr16:6775004..6805177hg19UCSC Ensembl
Outerchr16:6774504..6805677hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3830174
hg1930174
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637759
Supporting Variants
SamplesHG02332
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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