A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15365822



Internal ID5367638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7011610..7048738hg38UCSC Ensembl
Innerchr16:7012110..7048238hg38UCSC Ensembl
Outerchr16:7010610..7049738hg38UCSC Ensembl
chr16:7061611..7098739hg19UCSC Ensembl
Innerchr16:7062111..7098239hg19UCSC Ensembl
Outerchr16:7060611..7099739hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3837129
hg1937129
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637787
Supporting Variants
SamplesNA19091
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15365822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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