A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412312



Internal ID14912585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48858615..48859313hg38UCSC Ensembl
Innerchr3:48858614..48859314hg38UCSC Ensembl
Outerchr3:48857615..48860313hg38UCSC Ensembl
chr3:48896048..48896746hg19UCSC Ensembl
Innerchr3:48896047..48896747hg19UCSC Ensembl
Outerchr3:48895048..48897746hg19UCSC Ensembl
chr3:48871052..48871750hg18UCSC Ensembl
Innerchr3:48871751..48871051hg18UCSC Ensembl
Outerchr3:48870052..48872750hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694088
SamplesNA19239
Known GenesSLC25A20
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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