A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401249



Internal ID15248212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130763954..130766952hg38UCSC Ensembl
Innerchr12:130764954..130765952hg38UCSC Ensembl
Outerchr12:130762954..130767952hg38UCSC Ensembl
chr12:131248499..131251497hg19UCSC Ensembl
Innerchr12:131249499..131250497hg19UCSC Ensembl
Outerchr12:131247499..131252497hg19UCSC Ensembl
chr12:129814452..129817450hg18UCSC Ensembl
Innerchr12:129815452..129816450hg18UCSC Ensembl
Outerchr12:129813452..129818450hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv941e59
Supporting Variantsessv8688613
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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