A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15431134



Internal ID1347580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24905261..24906515hg38UCSC Ensembl
Innerchr16:24905311..24906465hg38UCSC Ensembl
Outerchr16:24905211..24906565hg38UCSC Ensembl
chr16:24916582..24917836hg19UCSC Ensembl
Innerchr16:24916632..24917786hg19UCSC Ensembl
Outerchr16:24916532..24917886hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381255
hg191255
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638260
Supporting Variants
SamplesHG01187
Known GenesSLC5A11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15431134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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