A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15480710



Internal ID1742948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54391795..54435631hg38UCSC Ensembl
Innerchr16:54391818..54435609hg38UCSC Ensembl
Outerchr16:54391773..54435654hg38UCSC Ensembl
chr16:54425707..54469543hg19UCSC Ensembl
Innerchr16:54425730..54469521hg19UCSC Ensembl
Outerchr16:54425685..54469566hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3843837
hg1943837
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638664
Supporting Variants
SamplesHG01610
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15480710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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