A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14398123



Internal ID5517858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16789304..16790695hg38UCSC Ensembl
Innerchr12:16789354..16790645hg38UCSC Ensembl
Outerchr12:16789254..16790745hg38UCSC Ensembl
chr12:16942238..16943629hg19UCSC Ensembl
Innerchr12:16942288..16943579hg19UCSC Ensembl
Outerchr12:16942188..16943679hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628696
Supporting Variants
SamplesNA18991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14398123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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