A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5667837



Internal ID9571012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267189..16268356hg38UCSC Ensembl
chr12:16420123..16421290hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661182
Supporting Variants
SamplesNA19130
Known GenesSLC15A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5667837
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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