A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14396099



Internal ID6758581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16217803..16220045hg38UCSC Ensembl
Innerchr12:16217803..16220045hg38UCSC Ensembl
Outerchr12:16217714..16220330hg38UCSC Ensembl
chr12:16370737..16372979hg19UCSC Ensembl
Innerchr12:16370737..16372979hg19UCSC Ensembl
Outerchr12:16370648..16373264hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382243
hg192243
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628686
Supporting Variants
SamplesNA20869
Known GenesSLC15A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14396099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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