A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365741



Internal ID5367557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6906745..6950136hg38UCSC Ensembl
Innerchr16:6907245..6949636hg38UCSC Ensembl
Outerchr16:6905745..6951136hg38UCSC Ensembl
chr16:6956746..7000137hg19UCSC Ensembl
Innerchr16:6957246..6999637hg19UCSC Ensembl
Outerchr16:6955746..7001137hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3843392
hg1943392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637778
Supporting Variants
SamplesHG03785
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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