A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15362376



Internal ID1519011
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637627
Supporting Variants
SamplesHG01393
Known GenesRPL3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15362376
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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