A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15368032



Internal ID5369848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7688622..7782225hg38UCSC Ensembl
Innerchr16:7688772..7782075hg38UCSC Ensembl
Outerchr16:7688472..7782375hg38UCSC Ensembl
chr16:7738624..7832227hg19UCSC Ensembl
Innerchr16:7738774..7832077hg19UCSC Ensembl
Outerchr16:7738474..7832377hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3893604
hg1993604
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637807
Supporting Variants
SamplesNA19917
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15368032
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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