A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389214



Internal ID15236181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117432864..117435362hg38UCSC Ensembl
Innerchr12:117433864..117434362hg38UCSC Ensembl
Outerchr12:117431864..117436362hg38UCSC Ensembl
chr12:117870669..117873167hg19UCSC Ensembl
Innerchr12:117871669..117872167hg19UCSC Ensembl
Outerchr12:117869669..117874167hg19UCSC Ensembl
chr12:116355052..116357550hg18UCSC Ensembl
Innerchr12:116356052..116356550hg18UCSC Ensembl
Outerchr12:116354052..116358550hg18UCSC 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 Variantsessv8688561
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389214
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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