A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365842



Internal ID5367658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7171862..7210329hg38UCSC Ensembl
Innerchr16:7171862..7210329hg38UCSC Ensembl
Outerchr16:7171362..7210829hg38UCSC Ensembl
chr16:7221863..7260330hg19UCSC Ensembl
Innerchr16:7221863..7260330hg19UCSC Ensembl
Outerchr16:7221363..7260830hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3838468
hg1938468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637793
Supporting Variants
SamplesHG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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