A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390160



Internal ID15237127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117433164..117435662hg38UCSC Ensembl
Innerchr12:117434164..117434662hg38UCSC Ensembl
Outerchr12:117432164..117436662hg38UCSC Ensembl
chr12:117870969..117873467hg19UCSC Ensembl
Innerchr12:117871969..117872467hg19UCSC Ensembl
Outerchr12:117869969..117874467hg19UCSC Ensembl
chr12:116355352..116357850hg18UCSC Ensembl
Innerchr12:116356352..116356850hg18UCSC Ensembl
Outerchr12:116354352..116358850hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv922e59
Supporting Variantsessv8688563
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390160
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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