A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347322



Internal ID14847587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124430753..124432151hg38UCSC Ensembl
Innerchr12:124431151..124431753hg38UCSC Ensembl
Outerchr12:124429753..124433151hg38UCSC Ensembl
chr12:124915299..124916697hg19UCSC Ensembl
Innerchr12:124915697..124916299hg19UCSC Ensembl
Outerchr12:124914299..124917697hg19UCSC Ensembl
chr12:123481252..123482650hg18UCSC Ensembl
Innerchr12:123482252..123481650hg18UCSC Ensembl
Outerchr12:123480252..123483650hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv928e59
Supporting Variantsessv8688580
SamplesNA19239
Known GenesNCOR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347322
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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