A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15364752



Internal ID5366568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6424076..6425913hg38UCSC Ensembl
Innerchr16:6424126..6425863hg38UCSC Ensembl
Outerchr16:6424016..6425973hg38UCSC Ensembl
chr16:6474077..6475914hg19UCSC Ensembl
Innerchr16:6474127..6475864hg19UCSC Ensembl
Outerchr16:6474017..6475974hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381838
hg191838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637746
Supporting Variants
SamplesHG00978
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15364752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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