A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15390780



Internal ID5392596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17381854..17385920hg38UCSC Ensembl
Innerchr16:17381854..17385920hg38UCSC Ensembl
Outerchr16:17381485..17386274hg38UCSC Ensembl
chr16:17475711..17479777hg19UCSC Ensembl
Innerchr16:17475711..17479777hg19UCSC Ensembl
Outerchr16:17475342..17480131hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384067
hg194067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638077
Supporting Variants
SamplesHG01840
Known GenesXYLT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15390780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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