A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637627



Internal ID7024418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1948731..1952439hg38UCSC Ensembl
Innerchr16:1948731..1952439hg38UCSC Ensembl
Outerchr16:1948641..1952611hg38UCSC Ensembl
chr16:1998732..2002440hg19UCSC Ensembl
Innerchr16:1998732..2002440hg19UCSC Ensembl
Outerchr16:1998642..2002612hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383709
hg193709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15362376
SamplesHG01393
Known GenesRPL3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637627
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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